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 21q22.13-22.3(chr21:37135738-42434515)x1 |
copy number loss |
See cases [RCV000051047] |
Chr21:37135738..42434515 [GRCh38] Chr21:38508038..43854625 [GRCh37] Chr21:37429908..42727694 [NCBI36] Chr21:21q22.13-22.3 |
pathogenic |
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 |
copy number loss |
See cases [RCV000052807] |
Chr21:35527952..44298520 [GRCh37] Chr21:34449822..43171589 [NCBI36] Chr21:21q22.1-22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] |
Chr21:35027972..46670405 [GRCh38] Chr21:36400269..48090317 [GRCh37] Chr21:35322139..46914745 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] |
Chr21:38273492..46670405 [GRCh38] Chr21:39645414..48090317 [GRCh37] Chr21:38567284..46914745 [NCBI36] Chr21:21q22.13-22.3 |
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(chr21:7749532-46623792)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(chr21:7749532-46670546)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 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 |
NM_001389.3(DSCAM):c.2841C>T (p.Ile947=) |
single nucleotide variant |
Malignant melanoma [RCV000072836] |
Chr21:40179033 [GRCh38] Chr21:41550960 [GRCh37] Chr21:40472830 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.3(DSCAM):c.2817C>T (p.Ser939=) |
single nucleotide variant |
Malignant melanoma [RCV000072837] |
Chr21:40179057 [GRCh38] Chr21:41550984 [GRCh37] Chr21:40472854 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.5(DSCAM):c.2477G>A (p.Arg826Gln) |
single nucleotide variant |
DSCAM-related disorder [RCV003929117]|not provided [RCV003431505] |
Chr21:40189118 [GRCh38] Chr21:41561045 [GRCh37] Chr21:40482915 [NCBI36] Chr21:21q22.2 |
likely benign|not provided |
NM_001389.3(DSCAM):c.2311G>A (p.Asp771Asn) |
single nucleotide variant |
Malignant melanoma [RCV000072839] |
Chr21:40276142 [GRCh38] Chr21:41648069 [GRCh37] Chr21:40569939 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.3(DSCAM):c.1581G>A (p.Val527=) |
single nucleotide variant |
Malignant melanoma [RCV000072840] |
Chr21:40338303 [GRCh38] Chr21:41710230 [GRCh37] Chr21:40632100 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.3(DSCAM):c.1552G>A (p.Gly518Arg) |
single nucleotide variant |
Malignant melanoma [RCV000072841] |
Chr21:40338332 [GRCh38] Chr21:41710259 [GRCh37] Chr21:40632129 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.3(DSCAM):c.1248G>A (p.Lys416=) |
single nucleotide variant |
Malignant melanoma [RCV000072842] |
Chr21:40339378 [GRCh38] Chr21:41711305 [GRCh37] Chr21:40633175 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.3(DSCAM):c.995C>T (p.Ser332Phe) |
single nucleotide variant |
Malignant melanoma [RCV000072843] |
Chr21:40347885 [GRCh38] Chr21:41719812 [GRCh37] Chr21:40641682 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.5(DSCAM):c.850C>T (p.Arg284Cys) |
single nucleotide variant |
Intellectual disability [RCV001251964] |
Chr21:40353549 [GRCh38] Chr21:41725476 [GRCh37] Chr21:40647346 [NCBI36] Chr21:21q22.2 |
likely benign|not provided |
NM_001389.3(DSCAM):c.209C>T (p.Pro70Leu) |
single nucleotide variant |
Malignant melanoma [RCV000072845] |
Chr21:40708606 [GRCh38] Chr21:42080532 [GRCh37] Chr21:41002402 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.3(DSCAM):c.5097C>T (p.Ser1699=) |
single nucleotide variant |
Malignant melanoma [RCV000063836] |
Chr21:40052046 [GRCh38] Chr21:41423973 [GRCh37] Chr21:40345843 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.3(DSCAM):c.4180T>C (p.Ser1394Pro) |
single nucleotide variant |
Malignant melanoma [RCV000063837] |
Chr21:40083959 [GRCh38] Chr21:41455886 [GRCh37] Chr21:40377756 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.3(DSCAM):c.2015G>A (p.Arg672Gln) |
single nucleotide variant |
Malignant melanoma [RCV000063838] |
Chr21:40312128 [GRCh38] Chr21:41684055 [GRCh37] Chr21:40605925 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001389.3(DSCAM):c.1670G>A (p.Gly557Glu) |
single nucleotide variant |
Malignant melanoma [RCV000063839] |
Chr21:40338214 [GRCh38] Chr21:41710141 [GRCh37] Chr21:40632011 [NCBI36] Chr21:21q22.2 |
not provided |
NM_001271534.1(DSCAM):c.4920-1047G>A |
single nucleotide variant |
Lung cancer [RCV000101939] |
Chr21:40056887 [GRCh38] Chr21:41428814 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001271534.1(DSCAM):c.3563-2785G>C |
single nucleotide variant |
Lung cancer [RCV000101940] |
Chr21:40127113 [GRCh38] Chr21:41499040 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001271534.1(DSCAM):c.3018+8394G>C |
single nucleotide variant |
Lung cancer [RCV000101941] |
Chr21:40158824 [GRCh38] Chr21:41530751 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001271534.1(DSCAM):c.361+3768C>T |
single nucleotide variant |
Lung cancer [RCV000101942] |
Chr21:40704686 [GRCh38] Chr21:42076612 [GRCh37] Chr21:21q22.2 |
uncertain significance |
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526) |
copy number loss |
DYRK1A-related intellectual disability syndrome [RCV000190476] |
Chr21:37839410..41427526 [GRCh37] Chr21:21q22.13-22.2 |
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 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 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(chr21:7749532-46664250)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 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 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 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 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-q22.3(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 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 |
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 |
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 21q22.2-22.3(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 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 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 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 |
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 [RCV000143120] |
Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3 |
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 |
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 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 |
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 |
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3 |
copy number gain |
See cases [RCV000239953] |
Chr21:39841248..44652723 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
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 |
GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1 |
copy number loss |
See cases [RCV000449183] |
Chr21:38176362..41901945 [GRCh37] Chr21:21q22.13-22.2 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 |
copy number gain |
See cases [RCV000446716] |
Chr21:15006457..43598570 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1 |
copy number loss |
See cases [RCV000446516] |
Chr21:38790552..43619940 [GRCh37] Chr21:21q22.13-22.3 |
pathogenic |
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 21q11.2-22.3(chr21:15285841-48097372)x3 |
copy number gain |
See cases [RCV000447729] |
Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 |
copy number gain |
See cases [RCV000448199] |
Chr21:15006457..44827632 [GRCh37] Chr21:21q11.2-22.3 |
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 21q22.2(chr21:41252630-41856999)x3 |
copy number gain |
See cases [RCV000510302] |
Chr21:41252630..41856999 [GRCh37] Chr21:21q22.2 |
uncertain significance |
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 21q22.2-22.3(chr21:41254101-48097372)x1 |
copy number loss |
See cases [RCV000511808] |
Chr21:41254101..48097372 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
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 21q22.13-22.3(chr21:37914123-48097372)x1 |
copy number loss |
See cases [RCV000510798] |
Chr21:37914123..48097372 [GRCh37] Chr21:21q22.13-22.3 |
pathogenic |
NM_001389.5(DSCAM):c.5260C>T (p.Arg1754Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624069] |
Chr21:40044201 [GRCh38] Chr21:41416128 [GRCh37] Chr21:21q22.2 |
pathogenic |
NM_001389.5(DSCAM):c.1787C>T (p.Pro596Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003251645] |
Chr21:40312356 [GRCh38] Chr21:41684283 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5588del (p.Pro1863fs) |
deletion |
not provided [RCV000656296] |
Chr21:40042469 [GRCh38] Chr21:41414396 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5867C>G (p.Ser1956Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003255336] |
Chr21:40013206 [GRCh38] Chr21:41385133 [GRCh37] Chr21:21q22.2 |
likely benign |
GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3 |
copy number gain |
See cases [RCV000512585] |
Chr21:36183329..42311538 [GRCh37] Chr21:21q22.12-22.2 |
likely pathogenic |
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 |
copy number gain |
not provided [RCV000684166] |
Chr21:33980213..42542987 [GRCh37] Chr21:21q22.11-22.2 |
pathogenic |
NM_001389.5(DSCAM):c.1337C>T (p.Pro446Leu) |
single nucleotide variant |
Intellectual disability [RCV000681511] |
Chr21:40339289 [GRCh38] Chr21:41711216 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val) |
single nucleotide variant |
Aganglionic megacolon [RCV000736049] |
Chr21:40189232 [GRCh38] Chr21:41561159 [GRCh37] Chr21:21q22.2 |
likely pathogenic |
NC_000021.9:g.(?_38981673)_(41568791_?)del |
deletion |
Autism [RCV000754228] |
Chr21:38981673..41568791 [GRCh38] Chr21:21q22.2-22.3 |
likely 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 |
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1 |
copy number loss |
not provided [RCV000741567] |
Chr21:40364245..44169928 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.2(chr21:41521231-41521681)x0 |
copy number loss |
not provided [RCV000741579] |
Chr21:41521231..41521681 [GRCh37] Chr21:21q22.2 |
benign |
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(chr21:10704198-48117896)x3 |
copy number gain |
not provided [RCV000741415] |
Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
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 |
NM_001389.5(DSCAM):c.2127C>T (p.Leu709=) |
single nucleotide variant |
not provided [RCV000896717] |
Chr21:40296110 [GRCh38] Chr21:41668037 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.459G>A (p.Ala153=) |
single nucleotide variant |
not provided [RCV000958784] |
Chr21:40692859 [GRCh38] Chr21:42064785 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.4521C>T (p.Thr1507=) |
single nucleotide variant |
not provided [RCV000971833] |
Chr21:40078877 [GRCh38] Chr21:41450804 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.279C>T (p.Thr93=) |
single nucleotide variant |
not provided [RCV000919835] |
Chr21:40708536 [GRCh38] Chr21:42080462 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.1788G>A (p.Pro596=) |
single nucleotide variant |
not provided [RCV000914807] |
Chr21:40312355 [GRCh38] Chr21:41684282 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.3594G>A (p.Ala1198=) |
single nucleotide variant |
not provided [RCV000944042] |
Chr21:40124297 [GRCh38] Chr21:41496224 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.1008C>T (p.Ser336=) |
single nucleotide variant |
not provided [RCV000882631] |
Chr21:40347872 [GRCh38] Chr21:41719799 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.3972C>T (p.Asn1324=) |
single nucleotide variant |
not provided [RCV000906251] |
Chr21:40085762 [GRCh38] Chr21:41457689 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.855C>T (p.Pro285=) |
single nucleotide variant |
not provided [RCV000901872] |
Chr21:40353544 [GRCh38] Chr21:41725471 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.21C>T (p.Ser7=) |
single nucleotide variant |
not provided [RCV000923406] |
Chr21:40846641 [GRCh38] Chr21:42218567 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5460C>T (p.His1820=) |
single nucleotide variant |
DSCAM-related disorder [RCV003958138]|not provided [RCV000901086] |
Chr21:40042597 [GRCh38] Chr21:41414524 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.2364G>A (p.Ala788=) |
single nucleotide variant |
not provided [RCV000906379] |
Chr21:40189231 [GRCh38] Chr21:41561158 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5280A>G (p.Ser1760=) |
single nucleotide variant |
DSCAM-related disorder [RCV003925902]|not provided [RCV000949105] |
Chr21:40044181 [GRCh38] Chr21:41416108 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.3750C>T (p.Asn1250=) |
single nucleotide variant |
DSCAM-related disorder [RCV003978187]|not provided [RCV000949106] |
Chr21:40093821 [GRCh38] Chr21:41465748 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.3562+9C>T |
single nucleotide variant |
not provided [RCV000976761] |
Chr21:40133845 [GRCh38] Chr21:41505772 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5823G>A (p.Thr1941=) |
single nucleotide variant |
not provided [RCV000926388] |
Chr21:40013250 [GRCh38] Chr21:41385177 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.3705C>T (p.Ser1235=) |
single nucleotide variant |
DSCAM-related disorder [RCV003906023]|not provided [RCV000971707] |
Chr21:40093866 [GRCh38] Chr21:41465793 [GRCh37] Chr21:21q22.2 |
benign |
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 |
NM_001389.5(DSCAM):c.3834C>T (p.Val1278=) |
single nucleotide variant |
not provided [RCV000951353] |
Chr21:40093737 [GRCh38] Chr21:41465664 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5871G>A (p.Thr1957=) |
single nucleotide variant |
not provided [RCV000923620] |
Chr21:40013202 [GRCh38] Chr21:41385129 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.4683C>G (p.Ala1561=) |
single nucleotide variant |
not provided [RCV000923910] |
Chr21:40078715 [GRCh38] Chr21:41450642 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.1746A>G (p.Gln582=) |
single nucleotide variant |
not provided [RCV000968411] |
Chr21:40338138 [GRCh38] Chr21:41710065 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.555T>C (p.Asp185=) |
single nucleotide variant |
not provided [RCV000978397] |
Chr21:40369199 [GRCh38] Chr21:41741126 [GRCh37] Chr21:21q22.2 |
benign|likely benign |
NM_001389.5(DSCAM):c.2268C>T (p.Val756=) |
single nucleotide variant |
not provided [RCV000900702] |
Chr21:40276185 [GRCh38] Chr21:41648112 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.4662G>A (p.Ala1554=) |
single nucleotide variant |
not provided [RCV000879199] |
Chr21:40078736 [GRCh38] Chr21:41450663 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn) |
single nucleotide variant |
Esophageal atresia [RCV000984737] |
Chr21:40055781 [GRCh38] Chr21:41427708 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1324C>T (p.Leu442=) |
single nucleotide variant |
not provided [RCV000925614] |
Chr21:40339302 [GRCh38] Chr21:41711229 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5526G>A (p.Thr1842=) |
single nucleotide variant |
not provided [RCV000900778] |
Chr21:40042531 [GRCh38] Chr21:41414458 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.297T>G (p.Thr99=) |
single nucleotide variant |
not provided [RCV000971978] |
Chr21:40708518 [GRCh38] Chr21:42080444 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.5182A>G (p.Thr1728Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003267561] |
Chr21:40051961 [GRCh38] Chr21:41423888 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1728C>T (p.Asn576=) |
single nucleotide variant |
DSCAM-related disorder [RCV003926118]|not provided [RCV000960210] |
Chr21:40338156 [GRCh38] Chr21:41710083 [GRCh37] Chr21:21q22.2 |
benign|likely benign |
NM_001389.5(DSCAM):c.5526G>C (p.Thr1842=) |
single nucleotide variant |
not provided [RCV000915892] |
Chr21:40042531 [GRCh38] Chr21:41414458 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.2130T>C (p.Asn710=) |
single nucleotide variant |
not provided [RCV000936371] |
Chr21:40296107 [GRCh38] Chr21:41668034 [GRCh37] Chr21:21q22.2 |
likely benign |
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 |
NM_001389.5(DSCAM):c.2754C>T (p.Tyr918=) |
single nucleotide variant |
not provided [RCV000891642] |
Chr21:40187156 [GRCh38] Chr21:41559083 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.3049A>T (p.Ile1017Phe) |
single nucleotide variant |
Intellectual disability [RCV001251966] |
Chr21:40144701 [GRCh38] Chr21:41516628 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.1379C>T (p.Thr460Met) |
single nucleotide variant |
not provided [RCV001200270] |
Chr21:40339247 [GRCh38] Chr21:41711174 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4532T>C (p.Leu1511Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003292346] |
Chr21:40078866 [GRCh38] Chr21:41450793 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.610A>G (p.Thr204Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003289665] |
Chr21:40369144 [GRCh38] Chr21:41741071 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2372C>T (p.Thr791Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003251758] |
Chr21:40189223 [GRCh38] Chr21:41561150 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2209A>G (p.Ile737Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003240683] |
Chr21:40276244 [GRCh38] Chr21:41648171 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.937C>T (p.Pro313Ser) |
single nucleotide variant |
See cases [RCV001591670] |
Chr21:40347943 [GRCh38] Chr21:41719870 [GRCh37] Chr21:21q22.2 |
uncertain significance |
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 |
NM_001389.5(DSCAM):c.4506C>T (p.Gly1502=) |
single nucleotide variant |
not provided [RCV000907676] |
Chr21:40078892 [GRCh38] Chr21:41450819 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5394A>G (p.Arg1798=) |
single nucleotide variant |
not provided [RCV000958783] |
Chr21:40042663 [GRCh38] Chr21:41414590 [GRCh37] Chr21:21q22.2 |
benign|likely benign |
NM_001389.5(DSCAM):c.1275C>T (p.Ser425=) |
single nucleotide variant |
not provided [RCV000933550] |
Chr21:40339351 [GRCh38] Chr21:41711278 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5383+9T>A |
single nucleotide variant |
DSCAM-related disorder [RCV003936085]|not provided [RCV000969747] |
Chr21:40044069 [GRCh38] Chr21:41415996 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.3775G>A (p.Val1259Ile) |
single nucleotide variant |
not provided [RCV000919245] |
Chr21:40093796 [GRCh38] Chr21:41465723 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5388A>C (p.Arg1796=) |
single nucleotide variant |
not provided [RCV000919290] |
Chr21:40042669 [GRCh38] Chr21:41414596 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.3339C>T (p.Ser1113=) |
single nucleotide variant |
DSCAM-related disorder [RCV003942939]|not provided [RCV000936568] |
Chr21:40142625 [GRCh38] Chr21:41514552 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.2475C>T (p.Asp825=) |
single nucleotide variant |
not provided [RCV000907955] |
Chr21:40189120 [GRCh38] Chr21:41561047 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.3841C>T (p.Leu1281=) |
single nucleotide variant |
not provided [RCV000932604] |
Chr21:40093730 [GRCh38] Chr21:41465657 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.1722G>A (p.Thr574=) |
single nucleotide variant |
not provided [RCV000939016] |
Chr21:40338162 [GRCh38] Chr21:41710089 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.2269G>C (p.Val757Leu) |
single nucleotide variant |
not provided [RCV000909404] |
Chr21:40276184 [GRCh38] Chr21:41648111 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.2163C>T (p.Ile721=) |
single nucleotide variant |
not provided [RCV000961233] |
Chr21:40296074 [GRCh38] Chr21:41668001 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5061G>C (p.Thr1687=) |
single nucleotide variant |
not provided [RCV000935908] |
Chr21:40052082 [GRCh38] Chr21:41424009 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.210C>T (p.Pro70=) |
single nucleotide variant |
not provided [RCV000958117] |
Chr21:40708605 [GRCh38] Chr21:42080531 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.2433G>A (p.Ala811=) |
single nucleotide variant |
not provided [RCV000913841] |
Chr21:40189162 [GRCh38] Chr21:41561089 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5592C>T (p.Ser1864=) |
single nucleotide variant |
not provided [RCV004809514] |
Chr21:40042465 [GRCh38] Chr21:41414392 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5269C>A (p.Pro1757Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002568722]|Intellectual disability [RCV001251965] |
Chr21:40044192 [GRCh38] Chr21:41416119 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5362G>A (p.Val1788Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002570481]|Intellectual disability [RCV001251967] |
Chr21:40044099 [GRCh38] Chr21:41416026 [GRCh37] Chr21:21q22.2 |
likely benign|uncertain significance |
GRCh37/hg19 21q22.2(chr21:41279109-41569994)x3 |
copy number gain |
not provided [RCV001007136] |
Chr21:41279109..41569994 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.934+1del |
deletion |
not provided [RCV001532453] |
Chr21:40353464 [GRCh38] Chr21:41725391 [GRCh37] Chr21:21q22.2 |
uncertain significance |
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 |
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 |
GRCh37/hg19 21q22.2(chr21:40868988-41402607)x4 |
copy number gain |
not provided [RCV001007135] |
Chr21:40868988..41402607 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.4548T>G (p.Phe1516Leu) |
single nucleotide variant |
Intellectual disability [RCV001251963] |
Chr21:40078850 [GRCh38] Chr21:41450777 [GRCh37] Chr21:21q22.2 |
likely benign |
GRCh37/hg19 21q22.2(chr21:41863720-42442756)x3 |
copy number gain |
not provided [RCV001259412] |
Chr21:41863720..42442756 [GRCh37] Chr21:21q22.2 |
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 |
NM_001389.5(DSCAM):c.2725_2731del (p.Phe909fs) |
deletion |
Intellectual disability [RCV001260665] |
Chr21:40187179..40187185 [GRCh38] Chr21:41559106..41559112 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1783G>C (p.Val595Leu) |
single nucleotide variant |
Intellectual disability [RCV001260666] |
Chr21:40338101 [GRCh38] Chr21:41710028 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3276del (p.Glu1093fs) |
deletion |
Inborn genetic diseases [RCV001267576] |
Chr21:40142688 [GRCh38] Chr21:41514615 [GRCh37] Chr21:21q22.2 |
pathogenic |
NM_001389.5(DSCAM):c.3511G>A (p.Ala1171Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV001265774] |
Chr21:40133905 [GRCh38] Chr21:41505832 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2807A>G (p.Lys936Arg) |
single nucleotide variant |
Intellectual disability [RCV001260881] |
Chr21:40179067 [GRCh38] Chr21:41550994 [GRCh37] Chr21:21q22.2 |
uncertain significance |
GRCh37/hg19 21q22.2(chr21:41239529-41403368)x3 |
copy number gain |
See cases [RCV001270251] |
Chr21:41239529..41403368 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4216G>A (p.Gly1406Ser) |
single nucleotide variant |
See cases [RCV001420314] |
Chr21:40083923 [GRCh38] Chr21:41455850 [GRCh37] Chr21:21q22.2 |
likely pathogenic |
NM_001389.5(DSCAM):c.2046C>G (p.Ser682Arg) |
single nucleotide variant |
See cases [RCV001784101] |
Chr21:40312097 [GRCh38] Chr21:41684024 [GRCh37] Chr21:21q22.2 |
uncertain significance |
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 |
copy number gain |
See cases [RCV001780078] |
Chr21:1..48129895 [GRCh37] Chr21:21p13-q22.3 |
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 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) |
copy number gain |
not specified [RCV002052723] |
Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.2(chr21:41337930-42352514)x3 |
copy number gain |
not provided [RCV001832904] |
Chr21:41337930..42352514 [GRCh37] Chr21:21q22.2 |
uncertain significance |
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 |
NM_001389.5(DSCAM):c.3551C>G (p.Thr1184Ser) |
single nucleotide variant |
not provided [RCV002012607] |
Chr21:40133865 [GRCh38] Chr21:41505792 [GRCh37] Chr21:21q22.2 |
uncertain significance |
GRCh37/hg19 21q22.2(chr21:40219284-41569839)x3 |
copy number gain |
not provided [RCV002472434] |
Chr21:40219284..41569839 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1201G>A (p.Val401Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003258184] |
Chr21:40347679 [GRCh38] Chr21:41719606 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.753C>A (p.His251Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002991114] |
Chr21:40353646 [GRCh38] Chr21:41725573 [GRCh37] Chr21:21q22.2 |
uncertain significance |
GRCh37/hg19 21q22.2(chr21:41237742-41856175)x3 |
copy number gain |
not provided [RCV002472447] |
Chr21:41237742..41856175 [GRCh37] Chr21:21q22.2 |
uncertain significance |
GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1 |
copy number loss |
not provided [RCV002472503] |
Chr21:42046399..45109188 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
NM_001389.5(DSCAM):c.5396G>A (p.Ser1799Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002905268] |
Chr21:40042661 [GRCh38] Chr21:41414588 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2269G>T (p.Val757Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002773130]|not provided [RCV004703297] |
Chr21:40276184 [GRCh38] Chr21:41648111 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5041C>T (p.Arg1681Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002993412] |
Chr21:40052102 [GRCh38] Chr21:41424029 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1771G>T (p.Val591Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002817077] |
Chr21:40338113 [GRCh38] Chr21:41710040 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.770G>A (p.Arg257His) |
single nucleotide variant |
Inborn genetic diseases [RCV002997256] |
Chr21:40353629 [GRCh38] Chr21:41725556 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.4285A>G (p.Ile1429Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002732375] |
Chr21:40080287 [GRCh38] Chr21:41452214 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1979C>T (p.Ser660Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002883847] |
Chr21:40312164 [GRCh38] Chr21:41684091 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3658C>T (p.Arg1220Ter) |
single nucleotide variant |
not provided [RCV002774766] |
Chr21:40124233 [GRCh38] Chr21:41496160 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2566G>C (p.Val856Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002991938] |
Chr21:40187975 [GRCh38] Chr21:41559902 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.605G>A (p.Arg202Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002840167] |
Chr21:40369149 [GRCh38] Chr21:41741076 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3608C>A (p.Ser1203Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002905185] |
Chr21:40124283 [GRCh38] Chr21:41496210 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1595A>T (p.Tyr532Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002752448] |
Chr21:40338289 [GRCh38] Chr21:41710216 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5185+2T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002727758] |
Chr21:40051956 [GRCh38] Chr21:41423883 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5609G>A (p.Arg1870Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002840600] |
Chr21:40042448 [GRCh38] Chr21:41414375 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.713C>T (p.Ala238Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002728984] |
Chr21:40353686 [GRCh38] Chr21:41725613 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3545C>T (p.Thr1182Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002777291] |
Chr21:40133871 [GRCh38] Chr21:41505798 [GRCh37] Chr21:21q22.2 |
uncertain significance |
GRCh37/hg19 21q22.2(chr21:41092465-41389416)x3 |
copy number gain |
not provided [RCV002475675] |
Chr21:41092465..41389416 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4690G>A (p.Ala1564Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002901407] |
Chr21:40078708 [GRCh38] Chr21:41450635 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4063G>A (p.Gly1355Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002946681] |
Chr21:40085671 [GRCh38] Chr21:41457598 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.3832G>A (p.Val1278Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002778574] |
Chr21:40093739 [GRCh38] Chr21:41465666 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5225C>T (p.Ala1742Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002738854] |
Chr21:40044236 [GRCh38] Chr21:41416163 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.63C>G (p.His21Gln) |
single nucleotide variant |
not provided [RCV002663057] |
Chr21:40708752 [GRCh38] Chr21:42080678 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2420T>C (p.Met807Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002707994] |
Chr21:40189175 [GRCh38] Chr21:41561102 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1171A>G (p.Lys391Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002798242] |
Chr21:40347709 [GRCh38] Chr21:41719636 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5515A>G (p.Ile1839Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002845428] |
Chr21:40042542 [GRCh38] Chr21:41414469 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5346G>C (p.Glu1782Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002976735] |
Chr21:40044115 [GRCh38] Chr21:41416042 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.851G>A (p.Arg284His) |
single nucleotide variant |
Inborn genetic diseases [RCV002692927] |
Chr21:40353548 [GRCh38] Chr21:41725475 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1268C>T (p.Pro423Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002799807] |
Chr21:40339358 [GRCh38] Chr21:41711285 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.473T>C (p.Val158Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002911986] |
Chr21:40692845 [GRCh38] Chr21:42064771 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1721C>T (p.Thr574Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002888555] |
Chr21:40338163 [GRCh38] Chr21:41710090 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5980G>A (p.Asp1994Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002660470] |
Chr21:40013093 [GRCh38] Chr21:41385020 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5955G>A (p.Met1985Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002987721] |
Chr21:40013118 [GRCh38] Chr21:41385045 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1532A>G (p.Lys511Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003004711] |
Chr21:40338352 [GRCh38] Chr21:41710279 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5359A>G (p.Ser1787Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003006578] |
Chr21:40044102 [GRCh38] Chr21:41416029 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2487C>G (p.Asn829Lys) |
single nucleotide variant |
not provided [RCV002509013] |
Chr21:40189108 [GRCh38] Chr21:41561035 [GRCh37] Chr21:21q22.2 |
not provided |
NM_001389.5(DSCAM):c.5318C>A (p.Pro1773His) |
single nucleotide variant |
Inborn genetic diseases [RCV002713389] |
Chr21:40044143 [GRCh38] Chr21:41416070 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2347A>G (p.Thr783Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002699049] |
Chr21:40276106 [GRCh38] Chr21:41648033 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3151C>G (p.Leu1051Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002930990] |
Chr21:40144599 [GRCh38] Chr21:41516526 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3668C>T (p.Thr1223Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002766966] |
Chr21:40124223 [GRCh38] Chr21:41496150 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3702C>G (p.Ile1234Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002674182] |
Chr21:40093869 [GRCh38] Chr21:41465796 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.2094C>A (p.Asp698Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002813441] |
Chr21:40296143 [GRCh38] Chr21:41668070 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2125C>T (p.Leu709Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002831823] |
Chr21:40296112 [GRCh38] Chr21:41668039 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4957C>G (p.Gln1653Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002877806] |
Chr21:40055803 [GRCh38] Chr21:41427730 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2612A>T (p.Tyr871Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002719326] |
Chr21:40187929 [GRCh38] Chr21:41559856 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3850+4G>C |
single nucleotide variant |
Inborn genetic diseases [RCV002719163] |
Chr21:40093717 [GRCh38] Chr21:41465644 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4348A>G (p.Thr1450Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002793074] |
Chr21:40080224 [GRCh38] Chr21:41452151 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.30G>C (p.Gln10His) |
single nucleotide variant |
Inborn genetic diseases [RCV002807717] |
Chr21:40846632 [GRCh38] Chr21:42218558 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4889-4C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002719340] |
Chr21:40062903 [GRCh38] Chr21:41434830 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.965A>G (p.Lys322Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002989484] |
Chr21:40347915 [GRCh38] Chr21:41719842 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1065C>G (p.Asn355Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002832457] |
Chr21:40347815 [GRCh38] Chr21:41719742 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2048A>G (p.Gln683Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002812399] |
Chr21:40312095 [GRCh38] Chr21:41684022 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1059C>G (p.Ile353Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003195472] |
Chr21:40347821 [GRCh38] Chr21:41719748 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5294C>A (p.Thr1765Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003200204] |
Chr21:40044167 [GRCh38] Chr21:41416094 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2352T>G (p.Val784=) |
single nucleotide variant |
not provided [RCV003223106] |
Chr21:40276101 [GRCh38] Chr21:41648028 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.4232G>A (p.Gly1411Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003220833] |
Chr21:40080340 [GRCh38] Chr21:41452267 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3596C>T (p.Ala1199Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003207446] |
Chr21:40124295 [GRCh38] Chr21:41496222 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5290C>T (p.Leu1764Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003210199] |
Chr21:40044171 [GRCh38] Chr21:41416098 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4556C>A (p.Thr1519Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003304094] |
Chr21:40078842 [GRCh38] Chr21:41450769 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2014C>T (p.Arg672Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003285534] |
Chr21:40312129 [GRCh38] Chr21:41684056 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4730T>A (p.Ile1577Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003345729] |
Chr21:40075195 [GRCh38] Chr21:41447122 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2986A>C (p.Ile996Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003379602] |
Chr21:40167250 [GRCh38] Chr21:41539177 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.874G>A (p.Val292Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003345020] |
Chr21:40353525 [GRCh38] Chr21:41725452 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.824T>C (p.Val275Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003347051] |
Chr21:40353575 [GRCh38] Chr21:41725502 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5284C>T (p.His1762Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003377034] |
Chr21:40044177 [GRCh38] Chr21:41416104 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4717A>G (p.Ile1573Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003367515] |
Chr21:40075208 [GRCh38] Chr21:41447135 [GRCh37] Chr21:21q22.2 |
likely benign |
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 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 21q22.2-22.3(chr21:40965330-43116823)x3 |
copy number gain |
not provided [RCV003485224] |
Chr21:40965330..43116823 [GRCh37] Chr21:21q22.2-22.3 |
uncertain significance |
NM_001389.5(DSCAM):c.4644G>T (p.Met1548Ile) |
single nucleotide variant |
DSCAM-related disorder [RCV003399884] |
Chr21:40078754 [GRCh38] Chr21:41450681 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4420G>T (p.Glu1474Ter) |
single nucleotide variant |
Autism [RCV004786932]|DSCAM-related disorder [RCV003399455] |
Chr21:40080152 [GRCh38] Chr21:41452079 [GRCh37] Chr21:21q22.2 |
likely pathogenic|uncertain significance |
NM_001389.5(DSCAM):c.5926G>C (p.Gly1976Arg) |
single nucleotide variant |
DSCAM-related disorder [RCV003418973] |
Chr21:40013147 [GRCh38] Chr21:41385074 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4043C>T (p.Thr1348Met) |
single nucleotide variant |
not provided [RCV003440565] |
Chr21:40085691 [GRCh38] Chr21:41457618 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.2146T>C (p.Tyr716His) |
single nucleotide variant |
not provided [RCV003440566] |
Chr21:40296091 [GRCh38] Chr21:41668018 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2090G>A (p.Arg697Gln) |
single nucleotide variant |
not provided [RCV003440567] |
Chr21:40296147 [GRCh38] Chr21:41668074 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.1454C>T (p.Thr485Ile) |
single nucleotide variant |
DSCAM-related disorder [RCV003402527] |
Chr21:40339172 [GRCh38] Chr21:41711099 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3313A>G (p.Ile1105Val) |
single nucleotide variant |
not provided [RCV003431504] |
Chr21:40142651 [GRCh38] Chr21:41514578 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1507+8T>C |
single nucleotide variant |
not provided [RCV003431506] |
Chr21:40339111 [GRCh38] Chr21:41711038 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.663G>A (p.Ala221=) |
single nucleotide variant |
not provided [RCV003431507] |
Chr21:40353736 [GRCh38] Chr21:41725663 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.1163G>T (p.Arg388Leu) |
single nucleotide variant |
DSCAM-related disorder [RCV003427884] |
Chr21:40347717 [GRCh38] Chr21:41719644 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1172A>G (p.Lys391Arg) |
single nucleotide variant |
DSCAM-related disorder [RCV003412381] |
Chr21:40347708 [GRCh38] Chr21:41719635 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3849A>T (p.Lys1283Asn) |
single nucleotide variant |
DSCAM-related disorder [RCV003410491] |
Chr21:40093722 [GRCh38] Chr21:41465649 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5454C>T (p.Tyr1818=) |
single nucleotide variant |
not provided [RCV003431503] |
Chr21:40042603 [GRCh38] Chr21:41414530 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.651A>G (p.Val217=) |
single nucleotide variant |
DSCAM-related disorder [RCV003954172]|not provided [RCV003431508] |
Chr21:40369103 [GRCh38] Chr21:41741030 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.1577G>A (p.Arg526His) |
single nucleotide variant |
DSCAM-related disorder [RCV003414105] |
Chr21:40338307 [GRCh38] Chr21:41710234 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3105C>G (p.Phe1035Leu) |
single nucleotide variant |
not provided [RCV003490718] |
Chr21:40144645 [GRCh38] Chr21:41516572 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3889A>G (p.Thr1297Ala) |
single nucleotide variant |
not provided [RCV003490719] |
Chr21:40087249 [GRCh38] Chr21:41459176 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5048C>T (p.Thr1683Met) |
single nucleotide variant |
not provided [RCV003490720] |
Chr21:40052095 [GRCh38] Chr21:41424022 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1814del (p.Pro605fs) |
deletion |
not provided [RCV003490722] |
Chr21:40312329 [GRCh38] Chr21:41684256 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4040G>T (p.Arg1347Leu) |
single nucleotide variant |
not provided [RCV003490721] |
Chr21:40085694 [GRCh38] Chr21:41457621 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3219del (p.Pro1074fs) |
deletion |
not provided [RCV003677225] |
Chr21:40144531 [GRCh38] Chr21:41516458 [GRCh37] Chr21:21q22.2 |
uncertain significance |
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 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 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 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 21q21.3-22.3(chr21:30685776-48097372)x3 |
copy number gain |
not specified [RCV003986149] |
Chr21:30685776..48097372 [GRCh37] Chr21:21q21.3-22.3 |
pathogenic |
NM_001389.5(DSCAM):c.4969C>T (p.Arg1657Ter) |
single nucleotide variant |
DSCAM-related disorder [RCV003921670] |
Chr21:40055791 [GRCh38] Chr21:41427718 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.722G>A (p.Arg241His) |
single nucleotide variant |
DSCAM-related disorder [RCV003983584] |
Chr21:40353677 [GRCh38] Chr21:41725604 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.186G>A (p.Thr62=) |
single nucleotide variant |
DSCAM-related disorder [RCV003973960] |
Chr21:40708629 [GRCh38] Chr21:42080555 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.3939T>C (p.Pro1313=) |
single nucleotide variant |
DSCAM-related disorder [RCV003959148] |
Chr21:40087199 [GRCh38] Chr21:41459126 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.3213C>T (p.Gly1071=) |
single nucleotide variant |
DSCAM-related disorder [RCV003934595] |
Chr21:40144537 [GRCh38] Chr21:41516464 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.3260-9T>C |
single nucleotide variant |
DSCAM-related disorder [RCV003957281] |
Chr21:40142713 [GRCh38] Chr21:41514640 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.750del (p.His251fs) |
deletion |
DSCAM-related disorder [RCV003983440] |
Chr21:40353649 [GRCh38] Chr21:41725576 [GRCh37] Chr21:21q22.2 |
likely pathogenic |
NM_001389.5(DSCAM):c.2187T>C (p.Ala729=) |
single nucleotide variant |
DSCAM-related disorder [RCV003956881] |
Chr21:40276266 [GRCh38] Chr21:41648193 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.4677G>A (p.Lys1559=) |
single nucleotide variant |
DSCAM-related disorder [RCV003944106] |
Chr21:40078721 [GRCh38] Chr21:41450648 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5115G>A (p.Thr1705=) |
single nucleotide variant |
DSCAM-related disorder [RCV003927111] |
Chr21:40052028 [GRCh38] Chr21:41423955 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.581A>T (p.Asn194Ile) |
single nucleotide variant |
DSCAM-related disorder [RCV003899093] |
Chr21:40369173 [GRCh38] Chr21:41741100 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5049G>A (p.Thr1683=) |
single nucleotide variant |
not provided [RCV003886684] |
Chr21:40052094 [GRCh38] Chr21:41424021 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.854C>T (p.Pro285Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004377206] |
Chr21:40353545 [GRCh38] Chr21:41725472 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4382G>A (p.Arg1461His) |
single nucleotide variant |
Inborn genetic diseases [RCV004377202] |
Chr21:40080190 [GRCh38] Chr21:41452117 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.377A>G (p.Tyr126Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004377201] |
Chr21:40692941 [GRCh38] Chr21:42064867 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3756T>A (p.Ser1252Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004377200] |
Chr21:40093815 [GRCh38] Chr21:41465742 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2564C>T (p.Thr855Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004377197] |
Chr21:40187977 [GRCh38] Chr21:41559904 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2207C>G (p.Pro736Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004377196] |
Chr21:40276246 [GRCh38] Chr21:41648173 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2101G>A (p.Gly701Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004377195] |
Chr21:40296136 [GRCh38] Chr21:41668063 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1232C>A (p.Ser411Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004377191] |
Chr21:40339394 [GRCh38] Chr21:41711321 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1174C>T (p.Leu392=) |
single nucleotide variant |
DSCAM-related disorder [RCV003941801] |
Chr21:40347706 [GRCh38] Chr21:41719633 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.893G>A (p.Arg298Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004377208] |
Chr21:40353506 [GRCh38] Chr21:41725433 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3214A>T (p.Thr1072Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004377199] |
Chr21:40144536 [GRCh38] Chr21:41516463 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2690A>G (p.Lys897Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004377198] |
Chr21:40187220 [GRCh38] Chr21:41559147 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5842A>G (p.Met1948Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004377204] |
Chr21:40013231 [GRCh38] Chr21:41385158 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1342C>T (p.Leu448Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004377192] |
Chr21:40339284 [GRCh38] Chr21:41711211 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3577G>A (p.Ala1193Thr) |
single nucleotide variant |
not provided [RCV003884971] |
Chr21:40124314 [GRCh38] Chr21:41496241 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2655C>T (p.Pro885=) |
single nucleotide variant |
DSCAM-related disorder [RCV003972216] |
Chr21:40187255 [GRCh38] Chr21:41559182 [GRCh37] Chr21:21q22.2 |
benign |
NM_001389.5(DSCAM):c.803C>T (p.Ser268Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004377205] |
Chr21:40353596 [GRCh38] Chr21:41725523 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5630A>T (p.Lys1877Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004377203] |
Chr21:40042427 [GRCh38] Chr21:41414354 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1880C>T (p.Thr627Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004377193] |
Chr21:40312263 [GRCh38] Chr21:41684190 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.5373G>A (p.Ser1791=) |
single nucleotide variant |
DSCAM-related disorder [RCV003951888] |
Chr21:40044088 [GRCh38] Chr21:41416015 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.310G>A (p.Ala104Thr) |
single nucleotide variant |
not provided [RCV004572981] |
Chr21:40708505 [GRCh38] Chr21:42080431 [GRCh37] Chr21:21q22.2 |
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 |
NM_001389.5(DSCAM):c.185C>T (p.Thr62Met) |
single nucleotide variant |
EBV-positive nodal T- and NK-cell lymphoma [RCV004560244] |
Chr21:40708630 [GRCh38] Chr21:42080556 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.557T>C (p.Val186Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004619896] |
Chr21:40369197 [GRCh38] Chr21:41741124 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.3347C>G (p.Ala1116Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004619900] |
Chr21:40142617 [GRCh38] Chr21:41514544 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1045C>T (p.Arg349Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004619908] |
Chr21:40347835 [GRCh38] Chr21:41719762 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4970G>A (p.Arg1657Gln) |
single nucleotide variant |
not provided [RCV004575296] |
Chr21:40055790 [GRCh38] Chr21:41427717 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3003C>G (p.Ile1001Met) |
single nucleotide variant |
not provided [RCV004575929] |
Chr21:40167233 [GRCh38] Chr21:41539160 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5879G>A (p.Gly1960Glu) |
single nucleotide variant |
not provided [RCV004574985] |
Chr21:40013194 [GRCh38] Chr21:41385121 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.3206G>A (p.Arg1069Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004619898] |
Chr21:40144544 [GRCh38] Chr21:41516471 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3875G>C (p.Ser1292Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004619903] |
Chr21:40087263 [GRCh38] Chr21:41459190 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.721C>A (p.Arg241Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004619904] |
Chr21:40353678 [GRCh38] Chr21:41725605 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1420T>A (p.Ser474Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004619906] |
Chr21:40339206 [GRCh38] Chr21:41711133 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4310G>A (p.Arg1437His) |
single nucleotide variant |
Inborn genetic diseases [RCV004619907] |
Chr21:40080262 [GRCh38] Chr21:41452189 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5695A>G (p.Ile1899Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004619909] |
Chr21:40013378 [GRCh38] Chr21:41385305 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2357-6T>C |
single nucleotide variant |
not provided [RCV004599130] |
Chr21:40189244 [GRCh38] Chr21:41561171 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.4277G>A (p.Ser1426Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004619897] |
Chr21:40080295 [GRCh38] Chr21:41452222 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4850G>A (p.Arg1617Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004619899] |
Chr21:40075075 [GRCh38] Chr21:41447002 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3583G>A (p.Val1195Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004619902] |
Chr21:40124308 [GRCh38] Chr21:41496235 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1418G>A (p.Ser473Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004619905] |
Chr21:40339208 [GRCh38] Chr21:41711135 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4380G>T (p.Gly1460=) |
single nucleotide variant |
not provided [RCV004575113] |
Chr21:40080192 [GRCh38] Chr21:41452119 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.2249C>T (p.Ser750Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004619910] |
Chr21:40276204 [GRCh38] Chr21:41648131 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.2213C>T (p.Ala738Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004619911] |
Chr21:40276240 [GRCh38] Chr21:41648167 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3996T>C (p.Ile1332=) |
single nucleotide variant |
not provided [RCV004810197] |
Chr21:40085738 [GRCh38] Chr21:41457665 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.4168A>G (p.Thr1390Ala) |
single nucleotide variant |
not provided [RCV004722664] |
Chr21:40083971 [GRCh38] Chr21:41455898 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.2268C>G (p.Val756=) |
single nucleotide variant |
DSCAM-related disorder [RCV004743840] |
Chr21:40276185 [GRCh38] Chr21:41648112 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.1698G>A (p.Lys566=) |
single nucleotide variant |
not provided [RCV004722492] |
Chr21:40338186 [GRCh38] Chr21:41710113 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.1334A>T (p.Asp445Val) |
single nucleotide variant |
DSCAM-related disorder [RCV004742910] |
Chr21:40339292 [GRCh38] Chr21:41711219 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5036-2A>G |
single nucleotide variant |
DSCAM-related disorder [RCV004742870] |
Chr21:40052109 [GRCh38] Chr21:41424036 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1875C>T (p.Pro625=) |
single nucleotide variant |
DSCAM-related disorder [RCV004743832] |
Chr21:40312268 [GRCh38] Chr21:41684195 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.2656C>A (p.Pro886Thr) |
single nucleotide variant |
DSCAM-related disorder [RCV004728624] |
Chr21:40187254 [GRCh38] Chr21:41559181 [GRCh37] Chr21:21q22.2 |
uncertain significance |
GRCh37/hg19 21q22.2(chr21:41402706-41571608)x3 |
copy number gain |
not provided [RCV004819658] |
Chr21:41402706..41571608 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.842A>G (p.Glu281Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004974613] |
Chr21:40353557 [GRCh38] Chr21:41725484 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1216A>T (p.Thr406Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004974615] |
Chr21:40339410 [GRCh38] Chr21:41711337 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5129C>T (p.Ser1710Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004974616] |
Chr21:40052014 [GRCh38] Chr21:41423941 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4520C>T (p.Thr1507Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004974617] |
Chr21:40078878 [GRCh38] Chr21:41450805 [GRCh37] Chr21:21q22.2 |
likely benign |
NM_001389.5(DSCAM):c.1775C>A (p.Thr592Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004974621] |
Chr21:40338109 [GRCh38] Chr21:41710036 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.659C>G (p.Pro220Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004974624] |
Chr21:40353740 [GRCh38] Chr21:41725667 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.5224G>T (p.Ala1742Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004974626] |
Chr21:40044237 [GRCh38] Chr21:41416164 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4442A>T (p.Gln1481Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004974620] |
Chr21:40078956 [GRCh38] Chr21:41450883 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.1904G>A (p.Arg635Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004974618] |
Chr21:40312239 [GRCh38] Chr21:41684166 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4541G>A (p.Arg1514Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004974627] |
Chr21:40078857 [GRCh38] Chr21:41450784 [GRCh37] Chr21:21q22.2 |
uncertain significance |
GRCh37/hg19 21q22.11-22.3(chr21:34586759-48097372)x3 |
copy number gain |
not provided [RCV004819321] |
Chr21:34586759..48097372 [GRCh37] Chr21:21q22.11-22.3 |
pathogenic |
NM_001389.5(DSCAM):c.555T>A (p.Asp185Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004974622] |
Chr21:40369199 [GRCh38] Chr21:41741126 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.3485G>A (p.Ser1162Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004974623] |
Chr21:40133931 [GRCh38] Chr21:41505858 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.100G>A (p.Val34Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004974625] |
Chr21:40708715 [GRCh38] Chr21:42080641 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.358G>C (p.Ala120Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004974614] |
Chr21:40708457 [GRCh38] Chr21:42080383 [GRCh37] Chr21:21q22.2 |
uncertain significance |
NM_001389.5(DSCAM):c.4556C>T (p.Thr1519Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004974619] |
Chr21:40078842 [GRCh38] Chr21:41450769 [GRCh37] Chr21:21q22.2 |
uncertain significance |