DSCAML1 (DS cell adhesion molecule like 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: DSCAML1 (DS cell adhesion molecule like 1) Homo sapiens
Analyze
Symbol: DSCAML1
Name: DS cell adhesion molecule like 1
RGD ID: 1312583
HGNC Page HGNC:14656
Description: Enables protein homodimerization activity. Involved in brain development; embryonic skeletal system morphogenesis; and homophilic cell adhesion via plasma membrane adhesion molecules. Located in cell surface.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cell adhesion molecule DSCAML1; down syndrome cell adhesion molecule 2; Down syndrome cell adhesion molecule like 1; Down syndrome cell adhesion molecule-like protein 1; Downs syndrome cell adhesion molecule like 1; DSCAM-like 1; DSCAM2; KIAA1132
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811117,427,772 - 117,817,514 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11117,427,772 - 117,817,525 (-)EnsemblGRCh38hg38GRCh38
GRCh3711117,298,488 - 117,688,229 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,803,699 - 117,173,186 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411116,803,698 - 117,173,186NCBI
Celera11114,456,148 - 114,825,824 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11113,232,070 - 113,601,503 (-)NCBIHuRef
CHM1_111117,184,136 - 117,553,548 (-)NCBICHM1_1
T2T-CHM13v2.011117,444,420 - 117,833,926 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (IBA)
cell surface  (IDA)
extracellular space  (HDA)
membrane  (IEA)
plasma membrane  (IBA,IEA,TAS)
synapse  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10574461   PMID:11453658   PMID:12051741   PMID:12168954   PMID:12421765   PMID:18519826   PMID:19074352   PMID:19945391   PMID:20201926   PMID:20379614   PMID:21645617  
PMID:21873635   PMID:22664934   PMID:23599027   PMID:24271036   PMID:29676528   PMID:32460013   PMID:33501714   PMID:35914814   PMID:36543142  


Genomics

Comparative Map Data
DSCAML1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811117,427,772 - 117,817,514 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11117,427,772 - 117,817,525 (-)EnsemblGRCh38hg38GRCh38
GRCh3711117,298,488 - 117,688,229 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,803,699 - 117,173,186 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411116,803,698 - 117,173,186NCBI
Celera11114,456,148 - 114,825,824 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11113,232,070 - 113,601,503 (-)NCBIHuRef
CHM1_111117,184,136 - 117,553,548 (-)NCBICHM1_1
T2T-CHM13v2.011117,444,420 - 117,833,926 (-)NCBIT2T-CHM13v2.0
Dscaml1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39945,338,735 - 45,665,011 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl945,337,926 - 45,665,010 (+)EnsemblGRCm39 Ensembl
GRCm38945,427,433 - 45,753,713 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl945,426,628 - 45,753,712 (+)EnsemblGRCm38mm10GRCm38
MGSCv37945,238,376 - 45,561,796 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36945,177,638 - 45,504,708 (+)NCBIMGSCv36mm8
Celera942,711,034 - 43,036,189 (+)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
Dscaml1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8854,637,054 - 54,954,042 (+)NCBIGRCr8
mRatBN7.2845,740,298 - 46,057,322 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl845,740,298 - 46,057,320 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx851,241,621 - 51,558,558 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0849,520,390 - 49,837,319 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0847,384,518 - 47,701,590 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0849,733,835 - 50,056,115 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl849,737,798 - 50,055,560 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0848,363,393 - 48,680,159 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4848,406,373 - 48,723,775 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1848,415,176 - 48,732,542 (+)NCBI
Celera845,323,185 - 45,640,085 (+)NCBICelera
Cytogenetic Map8q22NCBI
Dscaml1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541218,708,993 - 19,022,523 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541218,708,444 - 19,022,538 (-)NCBIChiLan1.0ChiLan1.0
DSCAML1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29118,129,935 - 118,499,279 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111119,234,895 - 119,604,479 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011112,263,509 - 112,632,332 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111116,196,121 - 116,564,715 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11116,196,677 - 116,302,262 (-)Ensemblpanpan1.1panPan2
DSCAML1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1515,839,504 - 16,187,465 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl515,826,726 - 16,186,880 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha515,892,647 - 16,236,733 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0515,784,153 - 16,128,741 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl515,784,119 - 16,128,732 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1515,922,210 - 16,266,654 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0515,825,496 - 16,169,644 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0515,867,121 - 16,211,866 (+)NCBIUU_Cfam_GSD_1.0
Dscaml1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494799,704,544 - 100,018,127 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365422,620,469 - 2,939,578 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365422,619,910 - 2,939,578 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DSCAML1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl944,785,701 - 45,147,140 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1944,785,142 - 45,153,256 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2949,858,136 - 49,975,441 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DSCAML1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11108,801,895 - 109,167,011 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1108,802,452 - 108,906,272 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604316,884,696 - 17,253,166 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dscaml1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478412,854,420 - 13,183,132 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478412,853,870 - 13,183,224 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DSCAML1
1244 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 copy number gain See cases [RCV000053640] Chr11:116436425..118046231 [GRCh38]
Chr11:116307142..117916946 [GRCh37]
Chr11:115812352..117422156 [NCBI36]
Chr11:11q23.3		 pathogenic
NM_020693.3(DSCAML1):c.3816C>T (p.Leu1272=) single nucleotide variant Malignant melanoma [RCV000069177] Chr11:117450621 [GRCh38]
Chr11:117321337 [GRCh37]
Chr11:116826547 [NCBI36]
Chr11:11q23.3		 not provided
NM_020693.3(DSCAML1):c.3486C>T (p.Ile1162=) single nucleotide variant Malignant melanoma [RCV000069178] Chr11:117461556 [GRCh38]
Chr11:117332272 [GRCh37]
Chr11:116837482 [NCBI36]
Chr11:11q23.3		 not provided
NM_020693.3(DSCAML1):c.2358C>T (p.Ala786=) single nucleotide variant Malignant melanoma [RCV000062131] Chr11:117504928 [GRCh38]
Chr11:117375643 [GRCh37]
Chr11:116880853 [NCBI36]
Chr11:11q23.3		 not provided
NM_020693.3(DSCAML1):c.2357C>T (p.Ala786Val) single nucleotide variant Malignant melanoma [RCV000062132] Chr11:117504929 [GRCh38]
Chr11:117375644 [GRCh37]
Chr11:116880854 [NCBI36]
Chr11:11q23.3		 not provided
NM_020693.3(DSCAML1):c.691+113611G>T single nucleotide variant Lung cancer [RCV000109663] Chr11:117663180 [GRCh38]
Chr11:117533895 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.3(DSCAML1):c.691+26511C>A single nucleotide variant Lung cancer [RCV000109664] Chr11:117750280 [GRCh38]
Chr11:117620995 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.3(DSCAML1):c.226+1043A>T single nucleotide variant Lung cancer [RCV000109665] Chr11:117795991 [GRCh38]
Chr11:117666706 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_020693.4(DSCAML1):c.2141A>G (p.Asp714Gly) single nucleotide variant Malignant tumor of prostate [RCV000149271] Chr11:117504965 [GRCh38]
Chr11:117375680 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3 copy number gain See cases [RCV000137585] Chr11:115647670..117581883 [GRCh38]
Chr11:115518388..117452598 [GRCh37]
Chr11:115023598..116957808 [NCBI36]
Chr11:11q23.3		 uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_020693.4(DSCAML1):c.1231G>A (p.Val411Ile) single nucleotide variant Abnormal brain morphology [RCV000454190]|not provided [RCV002526372] Chr11:117518745 [GRCh38]
Chr11:117389460 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_020693.4(DSCAML1):c.3914A>C (p.Lys1305Thr) single nucleotide variant not specified [RCV004301655] Chr11:117439885 [GRCh38]
Chr11:117310601 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1345G>A (p.Val449Met) single nucleotide variant not specified [RCV004292043] Chr11:117518631 [GRCh38]
Chr11:117389346 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4698C>G (p.Phe1566Leu) single nucleotide variant not specified [RCV004290374] Chr11:117437144 [GRCh38]
Chr11:117307860 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:117266754-117349617)x3 copy number gain not provided [RCV000737688] Chr11:117266754..117349617 [GRCh37]
Chr11:11q23.3		 benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_020693.4(DSCAML1):c.1980C>T (p.Ser660=) single nucleotide variant DSCAML1-related disorder [RCV003960764]|not provided [RCV000965225] Chr11:117505536 [GRCh38]
Chr11:117376251 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_020693.4(DSCAML1):c.5556C>T (p.Ala1852=) single nucleotide variant not provided [RCV000929503] Chr11:117430852 [GRCh38]
Chr11:117301568 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6000C>T (p.Ser2000=) single nucleotide variant not provided [RCV000928113] Chr11:117428490 [GRCh38]
Chr11:117299206 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5358C>T (p.Ser1786=) single nucleotide variant DSCAML1-related disorder [RCV003913265]|not provided [RCV000948876] Chr11:117431550 [GRCh38]
Chr11:117302266 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.4034A>G (p.Asn1345Ser) single nucleotide variant Esophageal atresia [RCV000984642] Chr11:117439376 [GRCh38]
Chr11:117310092 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4244-5C>T single nucleotide variant not provided [RCV000919380] Chr11:117438088 [GRCh38]
Chr11:117308804 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3693C>T (p.Pro1231=) single nucleotide variant DSCAML1-related disorder [RCV003918454]|not provided [RCV000971020] Chr11:117450564 [GRCh38]
Chr11:117321280 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5180-10G>A single nucleotide variant DSCAML1-related disorder [RCV003940508]|not provided [RCV000884736] Chr11:117431738 [GRCh38]
Chr11:117302454 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.1383G>A (p.Met461Ile) single nucleotide variant not provided [RCV003779958]|not specified [RCV004307449] Chr11:117518593 [GRCh38]
Chr11:117389308 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5936C>T (p.Pro1979Leu) single nucleotide variant not provided [RCV005102563]|not specified [RCV004300159] Chr11:117428554 [GRCh38]
Chr11:117299270 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3694G>C (p.Gly1232Arg) single nucleotide variant not provided [RCV001945010] Chr11:117450563 [GRCh38]
Chr11:117321279 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_020693.4(DSCAML1):c.1161C>T (p.Phe387=) single nucleotide variant not provided [RCV000994729] Chr11:117521182 [GRCh38]
Chr11:117391897 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_020693.4(DSCAML1):c.3529G>A (p.Val1177Ile) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850451] Chr11:117458793 [GRCh38]
Chr11:117329509 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1304C>T (p.Pro435Leu) single nucleotide variant not provided [RCV003105047] Chr11:117518672 [GRCh38]
Chr11:117389387 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3445C>T (p.Arg1149Trp) single nucleotide variant not provided [RCV003105115] Chr11:117458877 [GRCh38]
Chr11:117329593 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5553C>T (p.Asn1851=) single nucleotide variant not provided [RCV003106335] Chr11:117430855 [GRCh38]
Chr11:117301571 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5879C>T (p.Ala1960Val) single nucleotide variant not provided [RCV003104472] Chr11:117428611 [GRCh38]
Chr11:117299327 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5674C>T (p.Arg1892Trp) single nucleotide variant not provided [RCV003104583] Chr11:117430734 [GRCh38]
Chr11:117301450 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6133G>A (p.Ala2045Thr) single nucleotide variant DSCAML1-related disorder [RCV004731506]|not provided [RCV003107025] Chr11:117428357 [GRCh38]
Chr11:117299073 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4019G>A (p.Arg1340Gln) single nucleotide variant DSCAML1-related disorder [RCV003940427]|not provided [RCV000881102] Chr11:117439391 [GRCh38]
Chr11:117310107 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3413-5G>A single nucleotide variant DSCAML1-related disorder [RCV003930711]|not provided [RCV000888148] Chr11:117458914 [GRCh38]
Chr11:117329630 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.4336A>G (p.Lys1446Glu) single nucleotide variant not provided [RCV000887433] Chr11:117437991 [GRCh38]
Chr11:117308707 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3441C>G (p.Thr1147=) single nucleotide variant not provided [RCV000919222] Chr11:117458881 [GRCh38]
Chr11:117329597 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.2019C>T (p.Asn673=) single nucleotide variant DSCAML1-related disorder [RCV003910401]|not provided [RCV000881916] Chr11:117505497 [GRCh38]
Chr11:117376212 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_020693.4(DSCAML1):c.1575C>T (p.Asn525=) single nucleotide variant not provided [RCV000911929] Chr11:117516675 [GRCh38]
Chr11:117387390 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.791G>A (p.Arg264Gln) single nucleotide variant not provided [RCV003730501]|not specified [RCV004308298] Chr11:117524951 [GRCh38]
Chr11:117395666 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3201A>G (p.Gln1067=) single nucleotide variant DSCAML1-related disorder [RCV003984031]|not provided [RCV001652454] Chr11:117465006 [GRCh38]
Chr11:117335722 [GRCh37]
Chr11:11q23.3		 benign
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_020693.4(DSCAML1):c.5248C>G (p.Leu1750Val) single nucleotide variant not provided [RCV003109089] Chr11:117431660 [GRCh38]
Chr11:117302376 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.773G>A (p.Arg258His) single nucleotide variant not provided [RCV003109096]|not specified [RCV004244576] Chr11:117524969 [GRCh38]
Chr11:117395684 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_020693.4(DSCAML1):c.1714dup (p.Glu572fs) duplication Intellectual disability [RCV001816029] Chr11:117516535..117516536 [GRCh38]
Chr11:117387250..117387251 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.195C>G (p.Asp65Glu) single nucleotide variant not provided [RCV001888909] Chr11:117780662 [GRCh38]
Chr11:117651377 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.766G>A (p.Ala256Thr) single nucleotide variant not provided [RCV001914832] Chr11:117524976 [GRCh38]
Chr11:117395691 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1819G>A (p.Ala607Thr) single nucleotide variant not provided [RCV001965909] Chr11:117505697 [GRCh38]
Chr11:117376412 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1277C>T (p.Ser426Leu) single nucleotide variant not provided [RCV001985378]|not specified [RCV004043751] Chr11:117518699 [GRCh38]
Chr11:117389414 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5944G>A (p.Gly1982Ser) single nucleotide variant not provided [RCV001896545] Chr11:117428546 [GRCh38]
Chr11:117299262 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-117A>G single nucleotide variant not provided [RCV001968478] Chr11:117797196 [GRCh38]
Chr11:117667911 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2716C>G (p.Arg906Gly) single nucleotide variant not provided [RCV001864581] Chr11:117480512 [GRCh38]
Chr11:117351227 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4548G>C (p.Glu1516Asp) single nucleotide variant not provided [RCV001872280] Chr11:117437294 [GRCh38]
Chr11:117308010 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2507G>A (p.Arg836Gln) single nucleotide variant not provided [RCV001889428] Chr11:117482015 [GRCh38]
Chr11:117352730 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.979G>A (p.Gly327Ser) single nucleotide variant not provided [RCV001929047]|not specified [RCV004044208] Chr11:117521364 [GRCh38]
Chr11:117392079 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3923G>A (p.Arg1308Gln) single nucleotide variant not provided [RCV002007935]|not specified [RCV004042300] Chr11:117439876 [GRCh38]
Chr11:117310592 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1309C>G (p.Pro437Ala) single nucleotide variant not provided [RCV001929348] Chr11:117518667 [GRCh38]
Chr11:117389382 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5950G>A (p.Ala1984Thr) single nucleotide variant not provided [RCV002039776] Chr11:117428540 [GRCh38]
Chr11:117299256 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5756C>T (p.Pro1919Leu) single nucleotide variant not provided [RCV001930061] Chr11:117428734 [GRCh38]
Chr11:117299450 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1435G>A (p.Asp479Asn) single nucleotide variant not provided [RCV001965511] Chr11:117518541 [GRCh38]
Chr11:117389256 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.117797226G>T single nucleotide variant not provided [RCV002021228] Chr11:117797226 [GRCh38]
Chr11:117667941 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5305G>A (p.Val1769Met) single nucleotide variant not provided [RCV001966986] Chr11:117431603 [GRCh38]
Chr11:117302319 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1282A>G (p.Met428Val) single nucleotide variant not provided [RCV002021175] Chr11:117518694 [GRCh38]
Chr11:117389409 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4085C>T (p.Thr1362Met) single nucleotide variant not provided [RCV001910871]|not specified [RCV004039153] Chr11:117439325 [GRCh38]
Chr11:117310041 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5557G>A (p.Asp1853Asn) single nucleotide variant not provided [RCV002022911] Chr11:117430851 [GRCh38]
Chr11:117301567 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5923G>A (p.Ala1975Thr) single nucleotide variant not provided [RCV001870910] Chr11:117428567 [GRCh38]
Chr11:117299283 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.526A>G (p.Ile176Val) single nucleotide variant not provided [RCV001928222] Chr11:117532508 [GRCh38]
Chr11:117403223 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1089C>T (p.Ile363=) single nucleotide variant not provided [RCV002007869] Chr11:117521254 [GRCh38]
Chr11:117391969 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4540G>A (p.Val1514Ile) single nucleotide variant not provided [RCV002043067] Chr11:117437302 [GRCh38]
Chr11:117308018 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5845G>A (p.Ala1949Thr) single nucleotide variant not provided [RCV001893380] Chr11:117428645 [GRCh38]
Chr11:117299361 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5827C>T (p.His1943Tyr) single nucleotide variant not provided [RCV001889483] Chr11:117428663 [GRCh38]
Chr11:117299379 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.136C>G (p.Pro46Ala) single nucleotide variant not provided [RCV001873028] Chr11:117780721 [GRCh38]
Chr11:117651436 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4678G>A (p.Gly1560Ser) single nucleotide variant not provided [RCV001910585] Chr11:117437164 [GRCh38]
Chr11:117307880 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NM_020693.4(DSCAML1):c.497T>G (p.Val166Gly) single nucleotide variant not provided [RCV002022621] Chr11:117776805 [GRCh38]
Chr11:117647520 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2671C>G (p.Pro891Ala) single nucleotide variant not provided [RCV002044408] Chr11:117480557 [GRCh38]
Chr11:117351272 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.62T>A (p.Val21Asp) single nucleotide variant not provided [RCV002039339] Chr11:117780795 [GRCh38]
Chr11:117651510 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3980+3G>A single nucleotide variant not provided [RCV001986313] Chr11:117439816 [GRCh38]
Chr11:117310532 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3717C>T (p.Ser1239=) single nucleotide variant not provided [RCV002022607] Chr11:117444031 [GRCh38]
Chr11:117314747 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_020693.4(DSCAML1):c.6001G>A (p.Ala2001Thr) single nucleotide variant not provided [RCV002042135]|not specified [RCV004907726] Chr11:117428489 [GRCh38]
Chr11:117299205 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3140del (p.Asp1047fs) deletion not provided [RCV001927582] Chr11:117465067 [GRCh38]
Chr11:117335783 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5840A>G (p.Asp1947Gly) single nucleotide variant not provided [RCV001892953] Chr11:117428650 [GRCh38]
Chr11:117299366 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5956C>T (p.Pro1986Ser) single nucleotide variant not provided [RCV001908233] Chr11:117428534 [GRCh38]
Chr11:117299250 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2020G>A (p.Ala674Thr) single nucleotide variant not provided [RCV001908231] Chr11:117505496 [GRCh38]
Chr11:117376211 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-124dup duplication not provided [RCV001891406] Chr11:117797202..117797203 [GRCh38]
Chr11:117667917..117667918 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.494C>T (p.Thr165Ile) single nucleotide variant not provided [RCV001943892] Chr11:117776808 [GRCh38]
Chr11:117647523 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5782G>A (p.Ala1928Thr) single nucleotide variant not provided [RCV002030735]|not specified [RCV004045206] Chr11:117428708 [GRCh38]
Chr11:117299424 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2231T>A (p.Ile744Asn) single nucleotide variant not provided [RCV001885436] Chr11:117503973 [GRCh38]
Chr11:117374688 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2927A>G (p.Glu976Gly) single nucleotide variant not provided [RCV001916529] Chr11:117471895 [GRCh38]
Chr11:117342610 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1433G>A (p.Arg478His) single nucleotide variant not provided [RCV001943133] Chr11:117518543 [GRCh38]
Chr11:117389258 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1975G>A (p.Val659Ile) single nucleotide variant not provided [RCV001979995] Chr11:117505541 [GRCh38]
Chr11:117376256 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5478C>A (p.His1826Gln) single nucleotide variant not provided [RCV001980707] Chr11:117430930 [GRCh38]
Chr11:117301646 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5992G>A (p.Ala1998Thr) single nucleotide variant not provided [RCV001943166] Chr11:117428498 [GRCh38]
Chr11:117299214 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.162C>T (p.Ser54=) single nucleotide variant not provided [RCV001940642] Chr11:117780695 [GRCh38]
Chr11:117651410 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_020693.4(DSCAML1):c.1168C>T (p.Arg390Cys) single nucleotide variant not provided [RCV001934235] Chr11:117521175 [GRCh38]
Chr11:117391890 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3568G>A (p.Val1190Ile) single nucleotide variant not provided [RCV001932907] Chr11:117458754 [GRCh38]
Chr11:117329470 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2816A>G (p.Asn939Ser) single nucleotide variant not provided [RCV001943393]|not specified [RCV004616867] Chr11:117472006 [GRCh38]
Chr11:117342721 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6031C>T (p.Pro2011Ser) single nucleotide variant not provided [RCV001897239] Chr11:117428459 [GRCh38]
Chr11:117299175 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4876+6G>A single nucleotide variant not provided [RCV001960222] Chr11:117435638 [GRCh38]
Chr11:117306354 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4831A>G (p.Ile1611Val) single nucleotide variant not provided [RCV002047660] Chr11:117435689 [GRCh38]
Chr11:117306405 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5228G>A (p.Arg1743Gln) single nucleotide variant not provided [RCV001999570]|not specified [RCV004917768] Chr11:117431680 [GRCh38]
Chr11:117302396 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4233C>G (p.Ser1411Arg) single nucleotide variant not provided [RCV002036881] Chr11:117438895 [GRCh38]
Chr11:117309611 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1235C>T (p.Ser412Leu) single nucleotide variant not provided [RCV001962749] Chr11:117518741 [GRCh38]
Chr11:117389456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3919G>A (p.Val1307Ile) single nucleotide variant not provided [RCV001897492] Chr11:117439880 [GRCh38]
Chr11:117310596 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5749C>T (p.Arg1917Cys) single nucleotide variant not provided [RCV002050410]|not specified [RCV004907776] Chr11:117428741 [GRCh38]
Chr11:117299457 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4033A>G (p.Asn1345Asp) single nucleotide variant not provided [RCV001923581] Chr11:117439377 [GRCh38]
Chr11:117310093 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5792G>A (p.Arg1931Gln) single nucleotide variant not provided [RCV002051366] Chr11:117428698 [GRCh38]
Chr11:117299414 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_117261473)_(117342771_?)dup duplication Nephronophthisis 15 [RCV001943077]|not provided [RCV001922972] Chr11:117261473..117342771 [GRCh37]
Chr11:11q23.3		 uncertain significance|no classifications from unflagged records
NM_020693.4(DSCAML1):c.4756G>C (p.Gly1586Arg) single nucleotide variant not provided [RCV001930920]|not specified [RCV004043616] Chr11:117435764 [GRCh38]
Chr11:117306480 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4720A>G (p.Ser1574Gly) single nucleotide variant not provided [RCV001973932] Chr11:117437122 [GRCh38]
Chr11:117307838 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3707C>T (p.Pro1236Leu) single nucleotide variant not provided [RCV001921201] Chr11:117450550 [GRCh38]
Chr11:117321266 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1363C>T (p.Arg455Cys) single nucleotide variant not provided [RCV001955820] Chr11:117518613 [GRCh38]
Chr11:117389328 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.19C>T (p.Leu7Phe) single nucleotide variant not provided [RCV002027049] Chr11:117797061 [GRCh38]
Chr11:117667776 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5045T>A (p.Ile1682Asn) single nucleotide variant not provided [RCV002010576] Chr11:117432486 [GRCh38]
Chr11:117303202 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1535G>A (p.Arg512Gln) single nucleotide variant not provided [RCV001867347]|not specified [RCV004907735] Chr11:117516715 [GRCh38]
Chr11:117387430 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5642G>A (p.Arg1881Gln) single nucleotide variant not provided [RCV001880453] Chr11:117430766 [GRCh38]
Chr11:117301482 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2497C>T (p.Arg833Cys) single nucleotide variant not provided [RCV001957089] Chr11:117482025 [GRCh38]
Chr11:117352740 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4381G>A (p.Val1461Met) single nucleotide variant not provided [RCV001922526]|not specified [RCV004041656] Chr11:117437946 [GRCh38]
Chr11:117308662 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5675G>A (p.Arg1892Gln) single nucleotide variant not provided [RCV001934205] Chr11:117430733 [GRCh38]
Chr11:117301449 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2110G>A (p.Gly704Ser) single nucleotide variant not provided [RCV001952080] Chr11:117504996 [GRCh38]
Chr11:117375711 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.673A>C (p.Ile225Leu) single nucleotide variant not provided [RCV001898280] Chr11:117525069 [GRCh38]
Chr11:117395784 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.412C>T (p.Arg138Cys) single nucleotide variant not provided [RCV001931735] Chr11:117776890 [GRCh38]
Chr11:117647605 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1016C>T (p.Thr339Met) single nucleotide variant not provided [RCV002046067] Chr11:117521327 [GRCh38]
Chr11:117392042 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6005C>A (p.Ala2002Asp) single nucleotide variant not provided [RCV001878274]|not specified [RCV004039611] Chr11:117428485 [GRCh38]
Chr11:117299201 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.389G>A (p.Arg130Gln) single nucleotide variant not provided [RCV001921526] Chr11:117776913 [GRCh38]
Chr11:117647628 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4152G>A (p.Pro1384=) single nucleotide variant not provided [RCV001930513] Chr11:117438976 [GRCh38]
Chr11:117309692 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_020693.4(DSCAML1):c.5938C>G (p.Pro1980Ala) single nucleotide variant not provided [RCV001974762] Chr11:117428552 [GRCh38]
Chr11:117299268 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-68G>A single nucleotide variant not provided [RCV002013718] Chr11:117797147 [GRCh38]
Chr11:117667862 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4651A>C (p.Met1551Leu) single nucleotide variant not provided [RCV001901399] Chr11:117437191 [GRCh38]
Chr11:117307907 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1371C>G (p.Asn457Lys) single nucleotide variant not provided [RCV001977715] Chr11:117518605 [GRCh38]
Chr11:117389320 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5764G>A (p.Val1922Met) single nucleotide variant not provided [RCV002030489]|not specified [RCV004043283] Chr11:117428726 [GRCh38]
Chr11:117299442 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5179+6C>T single nucleotide variant not provided [RCV001955383] Chr11:117432346 [GRCh38]
Chr11:117303062 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2360-3C>T single nucleotide variant not provided [RCV001917635] Chr11:117482165 [GRCh38]
Chr11:117352880 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3364G>A (p.Val1122Ile) single nucleotide variant not provided [RCV001957515]|not specified [RCV004044289] Chr11:117461498 [GRCh38]
Chr11:117332214 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1348C>A (p.Arg450=) single nucleotide variant not provided [RCV001899083] Chr11:117518628 [GRCh38]
Chr11:117389343 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_020693.4(DSCAML1):c.3222G>A (p.Thr1074=) single nucleotide variant not provided [RCV001977548] Chr11:117464985 [GRCh38]
Chr11:117335701 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_020693.4(DSCAML1):c.1169G>A (p.Arg390His) single nucleotide variant not provided [RCV001936003] Chr11:117521174 [GRCh38]
Chr11:117391889 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4163G>A (p.Arg1388His) single nucleotide variant not provided [RCV001975420] Chr11:117438965 [GRCh38]
Chr11:117309681 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4475A>G (p.Asn1492Ser) single nucleotide variant not provided [RCV001990010] Chr11:117437367 [GRCh38]
Chr11:117308083 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5215A>G (p.Ser1739Gly) single nucleotide variant not provided [RCV001981885]|not specified [RCV004042029] Chr11:117431693 [GRCh38]
Chr11:117302409 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5935C>T (p.Pro1979Ser) single nucleotide variant not provided [RCV001918159] Chr11:117428555 [GRCh38]
Chr11:117299271 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2992G>A (p.Val998Met) single nucleotide variant not provided [RCV001921708] Chr11:117469942 [GRCh38]
Chr11:117340658 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5951C>A (p.Ala1984Asp) single nucleotide variant not provided [RCV001971836] Chr11:117428539 [GRCh38]
Chr11:117299255 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4576C>A (p.Gln1526Lys) single nucleotide variant not provided [RCV001902287] Chr11:117437266 [GRCh38]
Chr11:117307982 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2533G>A (p.Gly845Ser) single nucleotide variant not provided [RCV001939278]|not specified [RCV004616903] Chr11:117481989 [GRCh38]
Chr11:117352704 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3289G>A (p.Val1097Ile) single nucleotide variant not provided [RCV001997289] Chr11:117461573 [GRCh38]
Chr11:117332289 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4961G>A (p.Arg1654Gln) single nucleotide variant not provided [RCV001992971] Chr11:117433203 [GRCh38]
Chr11:117303919 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2628C>G (p.Asp876Glu) single nucleotide variant not provided [RCV001864902] Chr11:117481202 [GRCh38]
Chr11:117351917 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4837C>T (p.Arg1613Cys) single nucleotide variant not provided [RCV002046224] Chr11:117435683 [GRCh38]
Chr11:117306399 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_020693.4(DSCAML1):c.3681C>G (p.Phe1227Leu) single nucleotide variant DSCAML1-related disorder [RCV004753480]|not provided [RCV002049158] Chr11:117450576 [GRCh38]
Chr11:117321292 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3835_3837del (p.Lys1279del) deletion not provided [RCV001977490] Chr11:117443911..117443913 [GRCh38]
Chr11:117314627..117314629 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.749C>T (p.Ser250Leu) single nucleotide variant not provided [RCV001932840]|not specified [RCV004616854] Chr11:117524993 [GRCh38]
Chr11:117395708 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6014C>T (p.Ala2005Val) single nucleotide variant not provided [RCV002012148]|not specified [RCV004907755] Chr11:117428476 [GRCh38]
Chr11:117299192 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2716C>T (p.Arg906Cys) single nucleotide variant not provided [RCV002019377] Chr11:117480512 [GRCh38]
Chr11:117351227 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4961G>C (p.Arg1654Pro) single nucleotide variant not provided [RCV001924983] Chr11:117433203 [GRCh38]
Chr11:117303919 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6018C>T (p.Pro2006=) single nucleotide variant not provided [RCV001940729] Chr11:117428472 [GRCh38]
Chr11:117299188 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4271A>G (p.Asn1424Ser) single nucleotide variant not provided [RCV002035026] Chr11:117438056 [GRCh38]
Chr11:117308772 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2687G>A (p.Arg896Gln) single nucleotide variant not provided [RCV002035022]|not specified [RCV004038809] Chr11:117480541 [GRCh38]
Chr11:117351256 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4574G>A (p.Trp1525Ter) single nucleotide variant not provided [RCV001997544] Chr11:117437268 [GRCh38]
Chr11:117307984 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5279G>A (p.Arg1760His) single nucleotide variant not provided [RCV001925960]|not specified [RCV004043397] Chr11:117431629 [GRCh38]
Chr11:117302345 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2135C>T (p.Ser712Leu) single nucleotide variant not provided [RCV001980425] Chr11:117504971 [GRCh38]
Chr11:117375686 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2908C>T (p.Arg970Cys) single nucleotide variant not provided [RCV001933001]|not specified [RCV004616871] Chr11:117471914 [GRCh38]
Chr11:117342629 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5479G>A (p.Ala1827Thr) single nucleotide variant not provided [RCV001902499] Chr11:117430929 [GRCh38]
Chr11:117301645 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3322G>A (p.Val1108Ile) single nucleotide variant not provided [RCV001934931] Chr11:117461540 [GRCh38]
Chr11:117332256 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4876+3G>T single nucleotide variant not provided [RCV001975571] Chr11:117435641 [GRCh38]
Chr11:117306357 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5939C>A (p.Pro1980Gln) single nucleotide variant not provided [RCV002031670] Chr11:117428551 [GRCh38]
Chr11:117299267 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3443C>T (p.Thr1148Met) single nucleotide variant not provided [RCV001935092] Chr11:117458879 [GRCh38]
Chr11:117329595 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.413G>A (p.Arg138His) single nucleotide variant not provided [RCV001937692] Chr11:117776889 [GRCh38]
Chr11:117647604 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5179+5G>A single nucleotide variant not provided [RCV001972192] Chr11:117432347 [GRCh38]
Chr11:117303063 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3221C>T (p.Thr1074Met) single nucleotide variant not provided [RCV002029996] Chr11:117464986 [GRCh38]
Chr11:117335702 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3212G>A (p.Arg1071Gln) single nucleotide variant not provided [RCV002032045] Chr11:117464995 [GRCh38]
Chr11:117335711 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5776C>T (p.Arg1926Cys) single nucleotide variant not provided [RCV001930612] Chr11:117428714 [GRCh38]
Chr11:117299430 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.128T>G (p.Val43Gly) single nucleotide variant not provided [RCV002027684] Chr11:117780729 [GRCh38]
Chr11:117651444 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.801G>A (p.Pro267=) single nucleotide variant not provided [RCV002050219] Chr11:117524941 [GRCh38]
Chr11:117395656 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_020693.4(DSCAML1):c.2729G>A (p.Arg910Gln) single nucleotide variant not provided [RCV001899474] Chr11:117480499 [GRCh38]
Chr11:117351214 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.390G>C (p.Arg130=) single nucleotide variant not provided [RCV002105293] Chr11:117776912 [GRCh38]
Chr11:117647627 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4907+10A>G single nucleotide variant not provided [RCV002085664] Chr11:117433431 [GRCh38]
Chr11:117304147 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3315C>T (p.Asp1105=) single nucleotide variant not provided [RCV002148669] Chr11:117461547 [GRCh38]
Chr11:117332263 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.615C>T (p.Ser205=) single nucleotide variant not provided [RCV002147209] Chr11:117532419 [GRCh38]
Chr11:117403134 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4092G>A (p.Thr1364=) single nucleotide variant DSCAML1-related disorder [RCV004753499]|not provided [RCV002090746] Chr11:117439318 [GRCh38]
Chr11:117310034 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3723C>T (p.Tyr1241=) single nucleotide variant not provided [RCV002090417] Chr11:117444025 [GRCh38]
Chr11:117314741 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2622G>C (p.Gly874=) single nucleotide variant not provided [RCV002106201] Chr11:117481208 [GRCh38]
Chr11:117351923 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2560-9G>A single nucleotide variant not provided [RCV002191374] Chr11:117481279 [GRCh38]
Chr11:117351994 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3025-11dup duplication not provided [RCV002110415] Chr11:117465192..117465193 [GRCh38]
Chr11:117335908..117335909 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5079C>T (p.Val1693=) single nucleotide variant not provided [RCV002086169] Chr11:117432452 [GRCh38]
Chr11:117303168 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.726C>T (p.Thr242=) single nucleotide variant DSCAML1-related disorder [RCV003968718]|not provided [RCV002166889] Chr11:117525016 [GRCh38]
Chr11:117395731 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5457G>A (p.Lys1819=) single nucleotide variant not provided [RCV002109011] Chr11:117430951 [GRCh38]
Chr11:117301667 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5180-12C>T single nucleotide variant not provided [RCV002168666] Chr11:117431740 [GRCh38]
Chr11:117302456 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5232C>T (p.Tyr1744=) single nucleotide variant not provided [RCV002168505] Chr11:117431676 [GRCh38]
Chr11:117302392 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4433-25TC[7] microsatellite not provided [RCV002192681] Chr11:117437424..117437425 [GRCh38]
Chr11:117308140..117308141 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5304C>T (p.Thr1768=) single nucleotide variant not provided [RCV002148062] Chr11:117431604 [GRCh38]
Chr11:117302320 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.409A>G (p.Met137Val) single nucleotide variant DSCAML1-related disorder [RCV003951320]|not provided [RCV002191469] Chr11:117776893 [GRCh38]
Chr11:117647608 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5424C>T (p.Tyr1808=) single nucleotide variant not provided [RCV002106580] Chr11:117430984 [GRCh38]
Chr11:117301700 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5686+15C>T single nucleotide variant not provided [RCV002127789] Chr11:117430707 [GRCh38]
Chr11:117301423 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6039C>T (p.Ala2013=) single nucleotide variant not provided [RCV002111440] Chr11:117428451 [GRCh38]
Chr11:117299167 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-129G>T single nucleotide variant DSCAML1-related disorder [RCV003913590]|not provided [RCV002205520] Chr11:117797208 [GRCh38]
Chr11:117667923 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.1063G>T (p.Val355Leu) single nucleotide variant not provided [RCV002169374] Chr11:117521280 [GRCh38]
Chr11:117391995 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.948T>C (p.His316=) single nucleotide variant DSCAML1-related disorder [RCV003978788]|not provided [RCV002091804] Chr11:117521395 [GRCh38]
Chr11:117392110 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.2421G>A (p.Glu807=) single nucleotide variant not provided [RCV002146951] Chr11:117482101 [GRCh38]
Chr11:117352816 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1125G>A (p.Ser375=) single nucleotide variant not provided [RCV002075336] Chr11:117521218 [GRCh38]
Chr11:117391933 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.537C>T (p.His179=) single nucleotide variant not provided [RCV002090817] Chr11:117532497 [GRCh38]
Chr11:117403212 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2360-6C>T single nucleotide variant not provided [RCV002124910] Chr11:117482168 [GRCh38]
Chr11:117352883 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5964C>T (p.Pro1988=) single nucleotide variant not provided [RCV002189720] Chr11:117428526 [GRCh38]
Chr11:117299242 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5760C>T (p.Cys1920=) single nucleotide variant DSCAML1-related disorder [RCV003978750]|not provided [RCV002127473] Chr11:117428730 [GRCh38]
Chr11:117299446 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.978C>T (p.Thr326=) single nucleotide variant DSCAML1-related disorder [RCV003923434]|not provided [RCV002087272] Chr11:117521365 [GRCh38]
Chr11:117392080 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.937+7dup duplication DSCAML1-related disorder [RCV003978763]|not provided [RCV002147467] Chr11:117524797..117524798 [GRCh38]
Chr11:117395512..117395513 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5292C>T (p.Ser1764=) single nucleotide variant not provided [RCV002107767] Chr11:117431616 [GRCh38]
Chr11:117302332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2785+11G>T single nucleotide variant not provided [RCV002169053] Chr11:117480432 [GRCh38]
Chr11:117351147 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4877-9G>A single nucleotide variant DSCAML1-related disorder [RCV003978662]|not provided [RCV002109545] Chr11:117433480 [GRCh38]
Chr11:117304196 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3228C>T (p.Pro1076=) single nucleotide variant not provided [RCV002167783] Chr11:117464979 [GRCh38]
Chr11:117335695 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4600G>C (p.Gly1534Arg) single nucleotide variant not provided [RCV002167797] Chr11:117437242 [GRCh38]
Chr11:117307958 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5934C>A (p.Ala1978=) single nucleotide variant not provided [RCV002087214] Chr11:117428556 [GRCh38]
Chr11:117299272 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5943C>T (p.Ala1981=) single nucleotide variant not provided [RCV002111770] Chr11:117428547 [GRCh38]
Chr11:117299263 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5022A>G (p.Gln1674=) single nucleotide variant DSCAML1-related disorder [RCV003984206]|not provided [RCV002124603] Chr11:117433142 [GRCh38]
Chr11:117303858 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.123G>C (p.Val41=) single nucleotide variant not provided [RCV002167864] Chr11:117780734 [GRCh38]
Chr11:117651449 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4671G>A (p.Ala1557=) single nucleotide variant not provided [RCV002174937] Chr11:117437171 [GRCh38]
Chr11:117307887 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.658+10A>G single nucleotide variant not provided [RCV002150333] Chr11:117532366 [GRCh38]
Chr11:117403081 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5442C>A (p.Ala1814=) single nucleotide variant not provided [RCV002124487] Chr11:117430966 [GRCh38]
Chr11:117301682 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3569-16C>A single nucleotide variant not provided [RCV002115934] Chr11:117450704 [GRCh38]
Chr11:117321420 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3266-10C>A single nucleotide variant DSCAML1-related disorder [RCV003958581]|not provided [RCV002214823] Chr11:117461606 [GRCh38]
Chr11:117332322 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4641C>T (p.Tyr1547=) single nucleotide variant not provided [RCV002107557] Chr11:117437201 [GRCh38]
Chr11:117307917 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3568+13C>T single nucleotide variant not provided [RCV002114836] Chr11:117458741 [GRCh38]
Chr11:117329457 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5637G>A (p.Ala1879=) single nucleotide variant not provided [RCV002079232] Chr11:117430771 [GRCh38]
Chr11:117301487 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3381G>A (p.Arg1127=) single nucleotide variant not provided [RCV002152507] Chr11:117461481 [GRCh38]
Chr11:117332197 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3273C>T (p.Ser1091=) single nucleotide variant not provided [RCV002117257] Chr11:117461589 [GRCh38]
Chr11:117332305 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5139A>G (p.Thr1713=) single nucleotide variant DSCAML1-related disorder [RCV003970888]|not provided [RCV002109540] Chr11:117432392 [GRCh38]
Chr11:117303108 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.2253G>A (p.Ser751=) single nucleotide variant not provided [RCV002211925] Chr11:117503951 [GRCh38]
Chr11:117374666 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6063G>A (p.Gly2021=) single nucleotide variant not provided [RCV002130776] Chr11:117428427 [GRCh38]
Chr11:117299143 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5877G>C (p.Gly1959=) single nucleotide variant not provided [RCV002149892] Chr11:117428613 [GRCh38]
Chr11:117299329 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5952C>T (p.Ala1984=) single nucleotide variant not provided [RCV002197509] Chr11:117428538 [GRCh38]
Chr11:117299254 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.84A>G (p.Val28=) single nucleotide variant not provided [RCV002079861] Chr11:117780773 [GRCh38]
Chr11:117651488 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4243+11G>A single nucleotide variant not provided [RCV002079862] Chr11:117438874 [GRCh38]
Chr11:117309590 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3981-20C>T single nucleotide variant not provided [RCV002153774] Chr11:117439449 [GRCh38]
Chr11:117310165 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3648G>A (p.Lys1216=) single nucleotide variant not provided [RCV002090052] Chr11:117450609 [GRCh38]
Chr11:117321325 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2286C>T (p.Ile762=) single nucleotide variant not provided [RCV002213031] Chr11:117503918 [GRCh38]
Chr11:117374633 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4410C>A (p.Ile1470=) single nucleotide variant not provided [RCV002093884] Chr11:117437917 [GRCh38]
Chr11:117308633 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1827C>T (p.Ile609=) single nucleotide variant not provided [RCV002175081] Chr11:117505689 [GRCh38]
Chr11:117376404 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4104T>C (p.Thr1368=) single nucleotide variant DSCAML1-related disorder [RCV003978857]|not provided [RCV002151033] Chr11:117439306 [GRCh38]
Chr11:117310022 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3762C>T (p.His1254=) single nucleotide variant not provided [RCV002097171] Chr11:117443986 [GRCh38]
Chr11:117314702 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-96_-91del deletion not provided [RCV002080848] Chr11:117797170..117797175 [GRCh38]
Chr11:117667885..117667890 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1092C>T (p.Arg364=) single nucleotide variant DSCAML1-related disorder [RCV003978722]|not provided [RCV002132505] Chr11:117521251 [GRCh38]
Chr11:117391966 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.1263C>T (p.Pro421=) single nucleotide variant not provided [RCV002133722] Chr11:117518713 [GRCh38]
Chr11:117389428 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.750G>A (p.Ser250=) single nucleotide variant not provided [RCV002132398] Chr11:117524992 [GRCh38]
Chr11:117395707 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5026+17A>C single nucleotide variant not provided [RCV002116909] Chr11:117433121 [GRCh38]
Chr11:117303837 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5180-9T>C single nucleotide variant not provided [RCV002150454] Chr11:117431737 [GRCh38]
Chr11:117302453 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4243+20C>T single nucleotide variant not provided [RCV002132385] Chr11:117438865 [GRCh38]
Chr11:117309581 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.1899C>T (p.Asp633=) single nucleotide variant not provided [RCV002110760] Chr11:117505617 [GRCh38]
Chr11:117376332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-134C>T single nucleotide variant not provided [RCV002077082] Chr11:117797213 [GRCh38]
Chr11:117667928 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4137G>A (p.Leu1379=) single nucleotide variant DSCAML1-related disorder [RCV003984199]|not provided [RCV002115784] Chr11:117439273 [GRCh38]
Chr11:117309989 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5763C>T (p.Pro1921=) single nucleotide variant not provided [RCV002126076] Chr11:117428727 [GRCh38]
Chr11:117299443 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3863-7C>T single nucleotide variant not provided [RCV002076144] Chr11:117439943 [GRCh38]
Chr11:117310659 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2785+11G>A single nucleotide variant not provided [RCV002094639] Chr11:117480432 [GRCh38]
Chr11:117351147 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.4191G>A (p.Ser1397=) single nucleotide variant not provided [RCV002151057] Chr11:117438937 [GRCh38]
Chr11:117309653 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5103C>T (p.Gly1701=) single nucleotide variant not provided [RCV002151749] Chr11:117432428 [GRCh38]
Chr11:117303144 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3980+9C>T single nucleotide variant DSCAML1-related disorder [RCV003916312]|not provided [RCV002134316] Chr11:117439810 [GRCh38]
Chr11:117310526 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6127G>A (p.Ala2043Thr) single nucleotide variant DSCAML1-related disorder [RCV003978633]|not provided [RCV002095703] Chr11:117428363 [GRCh38]
Chr11:117299079 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3288C>T (p.Asn1096=) single nucleotide variant not provided [RCV002165958] Chr11:117461574 [GRCh38]
Chr11:117332290 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4707G>C (p.Leu1569=) single nucleotide variant not provided [RCV002165962] Chr11:117437135 [GRCh38]
Chr11:117307851 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1311C>G (p.Pro437=) single nucleotide variant not provided [RCV002152959] Chr11:117518665 [GRCh38]
Chr11:117389380 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2380C>T (p.His794Tyr) single nucleotide variant not provided [RCV002195826] Chr11:117482142 [GRCh38]
Chr11:117352857 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3156C>T (p.Thr1052=) single nucleotide variant not provided [RCV002096164] Chr11:117465051 [GRCh38]
Chr11:117335767 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4244-4G>A single nucleotide variant DSCAML1-related disorder [RCV003923733]|not provided [RCV002114215] Chr11:117438087 [GRCh38]
Chr11:117308803 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_020693.4(DSCAML1):c.5265C>T (p.Ala1755=) single nucleotide variant not provided [RCV002073532] Chr11:117431643 [GRCh38]
Chr11:117302359 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.511+10G>A single nucleotide variant DSCAML1-related disorder [RCV003971172]|not provided [RCV002191943] Chr11:117776781 [GRCh38]
Chr11:117647496 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.1806C>T (p.Phe602=) single nucleotide variant DSCAML1-related disorder [RCV003903376]|not provided [RCV002115628] Chr11:117505710 [GRCh38]
Chr11:117376425 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_020693.4(DSCAML1):c.678C>T (p.Pro226=) single nucleotide variant DSCAML1-related disorder [RCV003978555]|not provided [RCV002195167] Chr11:117525064 [GRCh38]
Chr11:117395779 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_020693.4(DSCAML1):c.5940A>G (p.Pro1980=) single nucleotide variant DSCAML1-related disorder [RCV003913669]|not provided [RCV002096376] Chr11:117428550 [GRCh38]
Chr11:117299266 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5478C>T (p.His1826=) single nucleotide variant not provided [RCV002165456] Chr11:117430930 [GRCh38]
Chr11:117301646 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.47-8T>C single nucleotide variant not provided [RCV002150360] Chr11:117780818 [GRCh38]
Chr11:117651533 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2568C>T (p.Pro856=) single nucleotide variant DSCAML1-related disorder [RCV003926302]|not provided [RCV002193627] Chr11:117481262 [GRCh38]
Chr11:117351977 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4248C>T (p.Phe1416=) single nucleotide variant DSCAML1-related disorder [RCV003978718]|not provided [RCV002132342] Chr11:117438079 [GRCh38]
Chr11:117308795 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.1464G>C (p.Arg488=) single nucleotide variant not provided [RCV002121161] Chr11:117518512 [GRCh38]
Chr11:117389227 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.46+19G>C single nucleotide variant not provided [RCV002180631] Chr11:117797015 [GRCh38]
Chr11:117667730 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.658+19G>A single nucleotide variant not provided [RCV002119292] Chr11:117532357 [GRCh38]
Chr11:117403072 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2733C>T (p.Phe911=) single nucleotide variant not provided [RCV002083272] Chr11:117480495 [GRCh38]
Chr11:117351210 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3087C>T (p.Asn1029=) single nucleotide variant not provided [RCV002177466] Chr11:117465120 [GRCh38]
Chr11:117335836 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4720+7C>T single nucleotide variant not provided [RCV002200135] Chr11:117437115 [GRCh38]
Chr11:117307831 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4308C>T (p.Ser1436=) single nucleotide variant not provided [RCV002120163] Chr11:117438019 [GRCh38]
Chr11:117308735 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5687-14C>T single nucleotide variant not provided [RCV002102535] Chr11:117428817 [GRCh38]
Chr11:117299533 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3568+17C>T single nucleotide variant not provided [RCV002158370] Chr11:117458737 [GRCh38]
Chr11:117329453 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5686+18C>T single nucleotide variant not provided [RCV002118418] Chr11:117430704 [GRCh38]
Chr11:117301420 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1214-18G>A single nucleotide variant not provided [RCV002181893] Chr11:117518780 [GRCh38]
Chr11:117389495 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5179+14C>T single nucleotide variant not provided [RCV002136413] Chr11:117432338 [GRCh38]
Chr11:117303054 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3147G>A (p.Glu1049=) single nucleotide variant not provided [RCV002155068] Chr11:117465060 [GRCh38]
Chr11:117335776 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2025C>T (p.Ala675=) single nucleotide variant not provided [RCV002120657] Chr11:117505491 [GRCh38]
Chr11:117376206 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4243+8G>C single nucleotide variant not provided [RCV002202659] Chr11:117438877 [GRCh38]
Chr11:117309593 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3954C>T (p.Ala1318=) single nucleotide variant not provided [RCV002199785] Chr11:117439845 [GRCh38]
Chr11:117310561 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6084C>T (p.Leu2028=) single nucleotide variant not provided [RCV002117775] Chr11:117428406 [GRCh38]
Chr11:117299122 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.2004A>G (p.Thr668=) single nucleotide variant not provided [RCV002139390] Chr11:117505512 [GRCh38]
Chr11:117376227 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1348C>T (p.Arg450Trp) single nucleotide variant not provided [RCV002218819] Chr11:117518628 [GRCh38]
Chr11:117389343 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4005C>G (p.Ser1335=) single nucleotide variant not provided [RCV002141672] Chr11:117439405 [GRCh38]
Chr11:117310121 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2553A>G (p.Thr851=) single nucleotide variant not provided [RCV002176120] Chr11:117481969 [GRCh38]
Chr11:117352684 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.659-19G>A single nucleotide variant not provided [RCV002118479] Chr11:117525102 [GRCh38]
Chr11:117395817 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.937+13A>G single nucleotide variant not provided [RCV002164121] Chr11:117524792 [GRCh38]
Chr11:117395507 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5027-12T>C single nucleotide variant not provided [RCV002178211] Chr11:117432516 [GRCh38]
Chr11:117303232 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.1818C>T (p.Pro606=) single nucleotide variant DSCAML1-related disorder [RCV003978756]|not provided [RCV002142158] Chr11:117505698 [GRCh38]
Chr11:117376413 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.4720+8G>A single nucleotide variant not provided [RCV002204815] Chr11:117437114 [GRCh38]
Chr11:117307830 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1821C>T (p.Ala607=) single nucleotide variant DSCAML1-related disorder [RCV003923469]|not provided [RCV002182215] Chr11:117505695 [GRCh38]
Chr11:117376410 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3709-5C>T single nucleotide variant not provided [RCV002135445] Chr11:117444044 [GRCh38]
Chr11:117314760 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1182C>A (p.Thr394=) single nucleotide variant not provided [RCV002117500] Chr11:117521161 [GRCh38]
Chr11:117391876 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.693C>T (p.Gly231=) single nucleotide variant not provided [RCV002081425] Chr11:117525049 [GRCh38]
Chr11:117395764 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.291C>T (p.His97=) single nucleotide variant not provided [RCV002218664] Chr11:117780566 [GRCh38]
Chr11:117651281 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5220C>G (p.Thr1740=) single nucleotide variant DSCAML1-related disorder [RCV003958669]|not provided [RCV002119660] Chr11:117431688 [GRCh38]
Chr11:117302404 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5933C>G (p.Ala1978Gly) single nucleotide variant DSCAML1-related disorder [RCV003978706]|not provided [RCV002117860] Chr11:117428557 [GRCh38]
Chr11:117299273 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.2954-14G>A single nucleotide variant not provided [RCV002100252] Chr11:117469994 [GRCh38]
Chr11:117340710 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.1386G>A (p.Ser462=) single nucleotide variant not provided [RCV002081683] Chr11:117518590 [GRCh38]
Chr11:117389305 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5643G>A (p.Arg1881=) single nucleotide variant not provided [RCV002117979] Chr11:117430765 [GRCh38]
Chr11:117301481 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3237C>T (p.Ser1079=) single nucleotide variant DSCAML1-related disorder [RCV003916349]|not provided [RCV002175731] Chr11:117464970 [GRCh38]
Chr11:117335686 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.4425C>T (p.His1475=) single nucleotide variant not provided [RCV002159839] Chr11:117437902 [GRCh38]
Chr11:117308618 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3213G>C (p.Arg1071=) single nucleotide variant not provided [RCV002154593] Chr11:117464994 [GRCh38]
Chr11:117335710 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.846C>T (p.Ser282=) single nucleotide variant not provided [RCV002137947] Chr11:117524896 [GRCh38]
Chr11:117395611 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4890G>A (p.Leu1630=) single nucleotide variant DSCAML1-related disorder [RCV003913703]|not provided [RCV002120147] Chr11:117433458 [GRCh38]
Chr11:117304174 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-67G>C single nucleotide variant not provided [RCV002139830] Chr11:117797146 [GRCh38]
Chr11:117667861 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3654C>T (p.Asn1218=) single nucleotide variant not provided [RCV002100861] Chr11:117450603 [GRCh38]
Chr11:117321319 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5952C>G (p.Ala1984=) single nucleotide variant not provided [RCV002203806] Chr11:117428538 [GRCh38]
Chr11:117299254 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5603G>A (p.Arg1868His) single nucleotide variant not provided [RCV002156930] Chr11:117430805 [GRCh38]
Chr11:117301521 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3144C>T (p.Ser1048=) single nucleotide variant not provided [RCV002101030] Chr11:117465063 [GRCh38]
Chr11:117335779 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2142C>T (p.Asp714=) single nucleotide variant not provided [RCV002158598] Chr11:117504964 [GRCh38]
Chr11:117375679 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3709-17_3709-16del deletion not provided [RCV002123788] Chr11:117444055..117444056 [GRCh38]
Chr11:117314771..117314772 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.651T>G (p.Ser217=) single nucleotide variant not provided [RCV002136634] Chr11:117532383 [GRCh38]
Chr11:117403098 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.867C>T (p.Ser289=) single nucleotide variant not provided [RCV002157459] Chr11:117524875 [GRCh38]
Chr11:117395590 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.-88C>A single nucleotide variant not provided [RCV002216563] Chr11:117797167 [GRCh38]
Chr11:117667882 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2508G>T (p.Arg836=) single nucleotide variant DSCAML1-related disorder [RCV003958516]|not provided [RCV002177349] Chr11:117482014 [GRCh38]
Chr11:117352729 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5883C>T (p.Pro1961=) single nucleotide variant not provided [RCV002159273] Chr11:117428607 [GRCh38]
Chr11:117299323 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.514C>A (p.His172Asn) single nucleotide variant DSCAML1-related disorder [RCV003984202]|not provided [RCV002117800] Chr11:117532520 [GRCh38]
Chr11:117403235 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3981-12C>T single nucleotide variant not provided [RCV002121619] Chr11:117439441 [GRCh38]
Chr11:117310157 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2560-19C>T single nucleotide variant not provided [RCV002139739] Chr11:117481289 [GRCh38]
Chr11:117352004 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2786-16G>A single nucleotide variant not provided [RCV002138176] Chr11:117472052 [GRCh38]
Chr11:117342767 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2865A>G (p.Ala955=) single nucleotide variant DSCAML1-related disorder [RCV003973331]|not provided [RCV002203924] Chr11:117471957 [GRCh38]
Chr11:117342672 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3709-4G>A single nucleotide variant DSCAML1-related disorder [RCV003978827]|not provided [RCV002124211] Chr11:117444043 [GRCh38]
Chr11:117314759 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.6006C>T (p.Ala2002=) single nucleotide variant DSCAML1-related disorder [RCV003978585]|not provided [RCV002217575] Chr11:117428484 [GRCh38]
Chr11:117299200 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1221G>A (p.Thr407=) single nucleotide variant not provided [RCV002084318] Chr11:117518755 [GRCh38]
Chr11:117389470 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2433G>A (p.Thr811=) single nucleotide variant not provided [RCV002102716] Chr11:117482089 [GRCh38]
Chr11:117352804 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1305G>A (p.Pro435=) single nucleotide variant DSCAML1-related disorder [RCV003978826]|not provided [RCV002124163] Chr11:117518671 [GRCh38]
Chr11:117389386 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.2667C>T (p.Asp889=) single nucleotide variant not provided [RCV002122381] Chr11:117480561 [GRCh38]
Chr11:117351276 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.153C>T (p.Gly51=) single nucleotide variant not provided [RCV003110862] Chr11:117780704 [GRCh38]
Chr11:117651419 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_116660844)_(117870356_?)del deletion Nephronophthisis 15 [RCV003119459]|not provided [RCV003109683] Chr11:116660844..117870356 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance|no classifications from unflagged records
NM_020693.4(DSCAML1):c.6012G>A (p.Pro2004=) single nucleotide variant not provided [RCV003110269] Chr11:117428478 [GRCh38]
Chr11:117299194 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.511+10G>C single nucleotide variant not provided [RCV003112369] Chr11:117776781 [GRCh38]
Chr11:117647496 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4482G>A (p.Thr1494=) single nucleotide variant not provided [RCV003113037] Chr11:117437360 [GRCh38]
Chr11:117308076 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3622G>A (p.Val1208Ile) single nucleotide variant not provided [RCV003115244] Chr11:117450635 [GRCh38]
Chr11:117321351 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2532C>T (p.Asn844=) single nucleotide variant not provided [RCV003112632] Chr11:117481990 [GRCh38]
Chr11:117352705 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1407C>T (p.His469=) single nucleotide variant not provided [RCV003114845] Chr11:117518569 [GRCh38]
Chr11:117389284 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4190C>T (p.Ser1397Leu) single nucleotide variant not provided [RCV003115438] Chr11:117438938 [GRCh38]
Chr11:117309654 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5811C>T (p.Tyr1937=) single nucleotide variant not provided [RCV003116077] Chr11:117428679 [GRCh38]
Chr11:117299395 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4521C>T (p.Gly1507=) single nucleotide variant not provided [RCV003115565] Chr11:117437321 [GRCh38]
Chr11:117308037 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1926C>T (p.Gly642=) single nucleotide variant not provided [RCV003115695] Chr11:117505590 [GRCh38]
Chr11:117376305 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1404C>T (p.Ser468=) single nucleotide variant not provided [RCV003112956] Chr11:117518572 [GRCh38]
Chr11:117389287 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4275C>T (p.Ser1425=) single nucleotide variant not provided [RCV003115764] Chr11:117438052 [GRCh38]
Chr11:117308768 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5791C>T (p.Arg1931Trp) single nucleotide variant not provided [RCV003118476] Chr11:117428699 [GRCh38]
Chr11:117299415 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.388C>T (p.Arg130Trp) single nucleotide variant not provided [RCV003119188] Chr11:117776914 [GRCh38]
Chr11:117647629 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3222G>T (p.Thr1074=) single nucleotide variant not provided [RCV003118922] Chr11:117464985 [GRCh38]
Chr11:117335701 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-32C>T single nucleotide variant not provided [RCV003118985] Chr11:117797111 [GRCh38]
Chr11:117667826 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_020693.4(DSCAML1):c.2218C>A (p.Leu740Ile) single nucleotide variant not specified [RCV004311407] Chr11:117503986 [GRCh38]
Chr11:117374701 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-78C>T single nucleotide variant not specified [RCV004310374] Chr11:117797157 [GRCh38]
Chr11:117667872 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2526G>C (p.Lys842Asn) single nucleotide variant not specified [RCV004329716] Chr11:117481996 [GRCh38]
Chr11:117352711 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4145-7C>T single nucleotide variant not provided [RCV002613585] Chr11:117438990 [GRCh38]
Chr11:117309706 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.659-11del deletion not provided [RCV002730653] Chr11:117525094 [GRCh38]
Chr11:117395809 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2398G>T (p.Ala800Ser) single nucleotide variant not provided [RCV002863283] Chr11:117482124 [GRCh38]
Chr11:117352839 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4020G>C (p.Arg1340=) single nucleotide variant not provided [RCV002994553] Chr11:117439390 [GRCh38]
Chr11:117310106 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3818G>C (p.Arg1273Pro) single nucleotide variant not provided [RCV002726424] Chr11:117443930 [GRCh38]
Chr11:117314646 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.46+7C>T single nucleotide variant not provided [RCV002613668] Chr11:117797027 [GRCh38]
Chr11:117667742 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2414C>G (p.Ala805Gly) single nucleotide variant not provided [RCV002775841] Chr11:117482108 [GRCh38]
Chr11:117352823 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4582C>T (p.Leu1528Phe) single nucleotide variant not provided [RCV003075227] Chr11:117437260 [GRCh38]
Chr11:117307976 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3940G>C (p.Val1314Leu) single nucleotide variant not provided [RCV002858177] Chr11:117439859 [GRCh38]
Chr11:117310575 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2756G>A (p.Gly919Asp) single nucleotide variant not provided [RCV002614725] Chr11:117480472 [GRCh38]
Chr11:117351187 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1143C>T (p.Ser381=) single nucleotide variant not provided [RCV002994323] Chr11:117521200 [GRCh38]
Chr11:117391915 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6024C>T (p.Thr2008=) single nucleotide variant not provided [RCV003073844] Chr11:117428466 [GRCh38]
Chr11:117299182 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2313C>T (p.Asn771=) single nucleotide variant not provided [RCV002750164] Chr11:117503891 [GRCh38]
Chr11:117374606 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4145-19G>A single nucleotide variant not provided [RCV002776486] Chr11:117439002 [GRCh38]
Chr11:117309718 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5565G>A (p.Met1855Ile) single nucleotide variant not provided [RCV002863322] Chr11:117430843 [GRCh38]
Chr11:117301559 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-23G>A single nucleotide variant not provided [RCV002614260]|not specified [RCV004065893] Chr11:117797102 [GRCh38]
Chr11:117667817 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4086G>C (p.Thr1362=) single nucleotide variant not provided [RCV002991498] Chr11:117439324 [GRCh38]
Chr11:117310040 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5752G>A (p.Glu1918Lys) single nucleotide variant not provided [RCV002731009] Chr11:117428738 [GRCh38]
Chr11:117299454 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3783T>C (p.Tyr1261=) single nucleotide variant not provided [RCV003033544] Chr11:117443965 [GRCh38]
Chr11:117314681 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4365G>A (p.Leu1455=) single nucleotide variant not provided [RCV002730478] Chr11:117437962 [GRCh38]
Chr11:117308678 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5987C>T (p.Pro1996Leu) single nucleotide variant not provided [RCV002731048] Chr11:117428503 [GRCh38]
Chr11:117299219 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5884G>A (p.Ala1962Thr) single nucleotide variant not provided [RCV002616050]|not specified [RCV004070474] Chr11:117428606 [GRCh38]
Chr11:117299322 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2717G>A (p.Arg906His) single nucleotide variant not provided [RCV003095725] Chr11:117480511 [GRCh38]
Chr11:117351226 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6128C>T (p.Ala2043Val) single nucleotide variant not provided [RCV002971917] Chr11:117428362 [GRCh38]
Chr11:117299078 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6029C>A (p.Pro2010His) single nucleotide variant not specified [RCV004099034] Chr11:117428461 [GRCh38]
Chr11:117299177 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2630G>A (p.Arg877Gln) single nucleotide variant not provided [RCV002730567] Chr11:117481200 [GRCh38]
Chr11:117351915 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6126G>A (p.Gly2042=) single nucleotide variant not provided [RCV002613928] Chr11:117428364 [GRCh38]
Chr11:117299080 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5687-9_5687-8del microsatellite not provided [RCV002863232] Chr11:117428811..117428812 [GRCh38]
Chr11:117299527..117299528 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.923T>C (p.Ile308Thr) single nucleotide variant not provided [RCV002862541] Chr11:117524819 [GRCh38]
Chr11:117395534 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.96G>A (p.Leu32=) single nucleotide variant not provided [RCV003012247] Chr11:117780761 [GRCh38]
Chr11:117651476 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2754G>A (p.Thr918=) single nucleotide variant not provided [RCV002780031] Chr11:117480474 [GRCh38]
Chr11:117351189 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2136G>A (p.Ser712=) single nucleotide variant not provided [RCV002734802] Chr11:117504970 [GRCh38]
Chr11:117375685 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.66C>T (p.Gly22=) single nucleotide variant not provided [RCV002880588] Chr11:117780791 [GRCh38]
Chr11:117651506 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1495C>T (p.Arg499Ter) single nucleotide variant not provided [RCV002881153] Chr11:117518481 [GRCh38]
Chr11:117389196 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3602C>T (p.Pro1201Leu) single nucleotide variant not provided [RCV003015638] Chr11:117450655 [GRCh38]
Chr11:117321371 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.271G>T (p.Ala91Ser) single nucleotide variant not provided [RCV003017024] Chr11:117780586 [GRCh38]
Chr11:117651301 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4471A>G (p.Ile1491Val) single nucleotide variant not provided [RCV002756591] Chr11:117437371 [GRCh38]
Chr11:117308087 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-27C>T single nucleotide variant not provided [RCV002996799] Chr11:117797106 [GRCh38]
Chr11:117667821 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1437C>A (p.Asp479Glu) single nucleotide variant not provided [RCV002690247] Chr11:117518539 [GRCh38]
Chr11:117389254 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1070C>G (p.Pro357Arg) single nucleotide variant not provided [RCV002972112] Chr11:117521273 [GRCh38]
Chr11:117391988 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2625G>A (p.Glu875=) single nucleotide variant not provided [RCV002616995] Chr11:117481205 [GRCh38]
Chr11:117351920 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2559+14C>T single nucleotide variant not provided [RCV003016962] Chr11:117481949 [GRCh38]
Chr11:117352664 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.582C>A (p.Ser194=) single nucleotide variant DSCAML1-related disorder [RCV003926602]|not provided [RCV002974989] Chr11:117532452 [GRCh38]
Chr11:117403167 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2560-15C>T single nucleotide variant not provided [RCV002614072] Chr11:117481285 [GRCh38]
Chr11:117352000 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4155C>G (p.Asp1385Glu) single nucleotide variant not provided [RCV003034807] Chr11:117438973 [GRCh38]
Chr11:117309689 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3894C>T (p.Thr1298=) single nucleotide variant not provided [RCV002756259] Chr11:117439905 [GRCh38]
Chr11:117310621 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.213G>A (p.Pro71=) single nucleotide variant not provided [RCV002975630] Chr11:117780644 [GRCh38]
Chr11:117651359 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3177C>T (p.Phe1059=) single nucleotide variant not provided [RCV002618394] Chr11:117465030 [GRCh38]
Chr11:117335746 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.834G>A (p.Gly278=) single nucleotide variant not provided [RCV003017768] Chr11:117524908 [GRCh38]
Chr11:117395623 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4976T>C (p.Ile1659Thr) single nucleotide variant not provided [RCV003015930] Chr11:117433188 [GRCh38]
Chr11:117303904 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5104G>A (p.Val1702Ile) single nucleotide variant not provided [RCV002948104] Chr11:117432427 [GRCh38]
Chr11:117303143 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5955C>T (p.Pro1985=) single nucleotide variant not provided [RCV002996998] Chr11:117428535 [GRCh38]
Chr11:117299251 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.426C>T (p.Ala142=) single nucleotide variant not provided [RCV002636179] Chr11:117776876 [GRCh38]
Chr11:117647591 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1974C>T (p.Ser658=) single nucleotide variant not provided [RCV002617764] Chr11:117505542 [GRCh38]
Chr11:117376257 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2685C>G (p.Ile895Met) single nucleotide variant not provided [RCV002617793] Chr11:117480543 [GRCh38]
Chr11:117351258 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5951C>T (p.Ala1984Val) single nucleotide variant DSCAML1-related disorder [RCV003936519]|not provided [RCV003076940]|not specified [RCV004070416] Chr11:117428539 [GRCh38]
Chr11:117299255 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_020693.4(DSCAML1):c.672G>C (p.Ser224=) single nucleotide variant not provided [RCV003099061] Chr11:117525070 [GRCh38]
Chr11:117395785 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5058T>C (p.Asp1686=) single nucleotide variant not provided [RCV002794881] Chr11:117432473 [GRCh38]
Chr11:117303189 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2672C>T (p.Pro891Leu) single nucleotide variant not provided [RCV003035116] Chr11:117480556 [GRCh38]
Chr11:117351271 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4954G>A (p.Gly1652Ser) single nucleotide variant not provided [RCV002842326] Chr11:117433210 [GRCh38]
Chr11:117303926 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2188G>A (p.Gly730Arg) single nucleotide variant not provided [RCV002618303] Chr11:117504016 [GRCh38]
Chr11:117374731 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1379C>T (p.Thr460Ile) single nucleotide variant not provided [RCV003035121] Chr11:117518597 [GRCh38]
Chr11:117389312 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5221C>T (p.Arg1741Trp) single nucleotide variant not provided [RCV002780036] Chr11:117431687 [GRCh38]
Chr11:117302403 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3991G>A (p.Ala1331Thr) single nucleotide variant not provided [RCV002948151] Chr11:117439419 [GRCh38]
Chr11:117310135 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2560-8T>C single nucleotide variant not provided [RCV002970623] Chr11:117481278 [GRCh38]
Chr11:117351993 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4711T>C (p.Tyr1571His) single nucleotide variant not provided [RCV002730350] Chr11:117437131 [GRCh38]
Chr11:117307847 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.854G>A (p.Arg285Gln) single nucleotide variant not provided [RCV002614822]|not specified [RCV004907825] Chr11:117524888 [GRCh38]
Chr11:117395603 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3111C>T (p.Tyr1037=) single nucleotide variant not provided [RCV002751362] Chr11:117465096 [GRCh38]
Chr11:117335812 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.933C>T (p.Val311=) single nucleotide variant not provided [RCV002755134] Chr11:117524809 [GRCh38]
Chr11:117395524 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3708G>A (p.Pro1236=) single nucleotide variant not provided [RCV002971851] Chr11:117450549 [GRCh38]
Chr11:117321265 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3825C>T (p.Asn1275=) single nucleotide variant not provided [RCV003015955] Chr11:117443923 [GRCh38]
Chr11:117314639 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2328C>T (p.Asp776=) single nucleotide variant not provided [RCV002967940] Chr11:117503876 [GRCh38]
Chr11:117374591 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.427G>A (p.Val143Ile) single nucleotide variant not provided [RCV002904685] Chr11:117776875 [GRCh38]
Chr11:117647590 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-83G>A single nucleotide variant not provided [RCV002685673] Chr11:117797162 [GRCh38]
Chr11:117667877 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4650C>T (p.Arg1550=) single nucleotide variant not provided [RCV002862395] Chr11:117437192 [GRCh38]
Chr11:117307908 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2862G>A (p.Pro954=) single nucleotide variant not provided [RCV003075505] Chr11:117471960 [GRCh38]
Chr11:117342675 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4969A>G (p.Ile1657Val) single nucleotide variant not provided [RCV002617712]|not specified [RCV004065784] Chr11:117433195 [GRCh38]
Chr11:117303911 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4181C>T (p.Thr1394Ile) single nucleotide variant not specified [RCV004117171] Chr11:117438947 [GRCh38]
Chr11:117309663 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3404T>A (p.Val1135Asp) single nucleotide variant not provided [RCV002858570] Chr11:117461458 [GRCh38]
Chr11:117332174 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.50G>T (p.Arg17Leu) single nucleotide variant not provided [RCV002995105] Chr11:117780807 [GRCh38]
Chr11:117651522 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1418C>T (p.Thr473Ile) single nucleotide variant not provided [RCV003016261] Chr11:117518558 [GRCh38]
Chr11:117389273 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2045G>A (p.Arg682His) single nucleotide variant not provided [RCV003014916] Chr11:117505471 [GRCh38]
Chr11:117376186 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6005C>T (p.Ala2002Val) single nucleotide variant not provided [RCV002996181] Chr11:117428485 [GRCh38]
Chr11:117299201 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4433-25TC[3] microsatellite not provided [RCV002614226] Chr11:117437425..117437428 [GRCh38]
Chr11:117308141..117308144 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4411G>A (p.Glu1471Lys) single nucleotide variant not provided [RCV002775035] Chr11:117437916 [GRCh38]
Chr11:117308632 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2560-12G>A single nucleotide variant not provided [RCV002816412] Chr11:117481282 [GRCh38]
Chr11:117351997 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2109C>T (p.Tyr703=) single nucleotide variant not provided [RCV002903873] Chr11:117504997 [GRCh38]
Chr11:117375712 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2062+14G>A single nucleotide variant not provided [RCV002994033] Chr11:117505440 [GRCh38]
Chr11:117376155 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6040G>A (p.Gly2014Arg) single nucleotide variant not provided [RCV002971194]|not specified [RCV004068244] Chr11:117428450 [GRCh38]
Chr11:117299166 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6078G>A (p.Ser2026=) single nucleotide variant not provided [RCV003075046] Chr11:117428412 [GRCh38]
Chr11:117299128 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1032C>T (p.Phe344=) single nucleotide variant not provided [RCV002730954] Chr11:117521311 [GRCh38]
Chr11:117392026 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1260C>A (p.Asn420Lys) single nucleotide variant not provided [RCV002967422]|not specified [RCV004068321] Chr11:117518716 [GRCh38]
Chr11:117389431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3353C>T (p.Thr1118Ile) single nucleotide variant not provided [RCV002972095] Chr11:117461509 [GRCh38]
Chr11:117332225 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5878G>T (p.Ala1960Ser) single nucleotide variant not provided [RCV003033183] Chr11:117428612 [GRCh38]
Chr11:117299328 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.435G>A (p.Lys145=) single nucleotide variant not provided [RCV002816671] Chr11:117776867 [GRCh38]
Chr11:117647582 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4241G>T (p.Arg1414Leu) single nucleotide variant not provided [RCV002816677] Chr11:117438887 [GRCh38]
Chr11:117309603 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3569-15C>T single nucleotide variant not provided [RCV002613594] Chr11:117450703 [GRCh38]
Chr11:117321419 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1494G>A (p.Ala498=) single nucleotide variant not provided [RCV002974793] Chr11:117518482 [GRCh38]
Chr11:117389197 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1528G>C (p.Ala510Pro) single nucleotide variant not provided [RCV003076741] Chr11:117516722 [GRCh38]
Chr11:117387437 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1009G>T (p.Ala337Ser) single nucleotide variant not provided [RCV002775233] Chr11:117521334 [GRCh38]
Chr11:117392049 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3709-9G>A single nucleotide variant not provided [RCV002815821] Chr11:117444048 [GRCh38]
Chr11:117314764 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5355C>T (p.Ala1785=) single nucleotide variant not provided [RCV002975384] Chr11:117431553 [GRCh38]
Chr11:117302269 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3008T>C (p.Ile1003Thr) single nucleotide variant not provided [RCV002857939] Chr11:117469926 [GRCh38]
Chr11:117340642 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3118G>A (p.Val1040Met) single nucleotide variant not provided [RCV002970738] Chr11:117465089 [GRCh38]
Chr11:117335805 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3446G>A (p.Arg1149Gln) single nucleotide variant not provided [RCV002751318]|not specified [RCV004617092] Chr11:117458876 [GRCh38]
Chr11:117329592 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1422C>G (p.Gly474=) single nucleotide variant not provided [RCV002751350] Chr11:117518554 [GRCh38]
Chr11:117389269 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5688T>G (p.Ser1896Arg) single nucleotide variant not provided [RCV003013903] Chr11:117428802 [GRCh38]
Chr11:117299518 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.745G>A (p.Ala249Thr) single nucleotide variant not provided [RCV002947313] Chr11:117524997 [GRCh38]
Chr11:117395712 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5641C>T (p.Arg1881Trp) single nucleotide variant not provided [RCV002613678]|not specified [RCV004917792] Chr11:117430767 [GRCh38]
Chr11:117301483 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3464G>A (p.Arg1155Gln) single nucleotide variant not provided [RCV002756094] Chr11:117458858 [GRCh38]
Chr11:117329574 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6099G>A (p.Ser2033=) single nucleotide variant not provided [RCV003099027] Chr11:117428391 [GRCh38]
Chr11:117299107 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1436A>G (p.Asp479Gly) single nucleotide variant not specified [RCV004173039] Chr11:117518540 [GRCh38]
Chr11:117389255 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.559G>A (p.Val187Ile) single nucleotide variant not provided [RCV002618168] Chr11:117532475 [GRCh38]
Chr11:117403190 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4955G>A (p.Gly1652Asp) single nucleotide variant not provided [RCV003034331] Chr11:117433209 [GRCh38]
Chr11:117303925 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2764A>G (p.Ile922Val) single nucleotide variant not specified [RCV004140004] Chr11:117480464 [GRCh38]
Chr11:117351179 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3941T>C (p.Val1314Ala) single nucleotide variant not provided [RCV002863126] Chr11:117439858 [GRCh38]
Chr11:117310574 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.187A>G (p.Thr63Ala) single nucleotide variant not provided [RCV002731457] Chr11:117780670 [GRCh38]
Chr11:117651385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.46+18G>C single nucleotide variant not provided [RCV003017340] Chr11:117797016 [GRCh38]
Chr11:117667731 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5425G>C (p.Glu1809Gln) single nucleotide variant not provided [RCV003038774] Chr11:117430983 [GRCh38]
Chr11:117301699 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5938C>T (p.Pro1980Ser) single nucleotide variant not provided [RCV002800115] Chr11:117428552 [GRCh38]
Chr11:117299268 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.237C>T (p.Asn79=) single nucleotide variant not provided [RCV002639273] Chr11:117780620 [GRCh38]
Chr11:117651335 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4445G>A (p.Ser1482Asn) single nucleotide variant not provided [RCV002706372] Chr11:117437397 [GRCh38]
Chr11:117308113 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5108C>T (p.Ser1703Phe) single nucleotide variant not provided [RCV002706375]|not specified [RCV004067665] Chr11:117432423 [GRCh38]
Chr11:117303139 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3030C>T (p.Pro1010=) single nucleotide variant not provided [RCV002740165] Chr11:117465177 [GRCh38]
Chr11:117335893 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6153C>G (p.Thr2051=) single nucleotide variant not provided [RCV002593272] Chr11:117428337 [GRCh38]
Chr11:117299053 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.824G>A (p.Arg275His) single nucleotide variant not provided [RCV002662460] Chr11:117524918 [GRCh38]
Chr11:117395633 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5097T>C (p.Cys1699=) single nucleotide variant not provided [RCV002797194] Chr11:117432434 [GRCh38]
Chr11:117303150 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2954-12T>C single nucleotide variant not provided [RCV002695597] Chr11:117469992 [GRCh38]
Chr11:117340708 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3384C>G (p.Val1128=) single nucleotide variant not provided [RCV002871181] Chr11:117461478 [GRCh38]
Chr11:117332194 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5687-16G>A single nucleotide variant not provided [RCV003002100] Chr11:117428819 [GRCh38]
Chr11:117299535 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5118C>T (p.His1706=) single nucleotide variant not provided [RCV002696118] Chr11:117432413 [GRCh38]
Chr11:117303129 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3339G>A (p.Glu1113=) single nucleotide variant not provided [RCV002914275] Chr11:117461523 [GRCh38]
Chr11:117332239 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2961T>A (p.Asp987Glu) single nucleotide variant not provided [RCV002846946] Chr11:117469973 [GRCh38]
Chr11:117340689 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5709G>A (p.Leu1903=) single nucleotide variant not provided [RCV003019930] Chr11:117428781 [GRCh38]
Chr11:117299497 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4586G>A (p.Arg1529Gln) single nucleotide variant not provided [RCV003081131]|not specified [RCV004070462] Chr11:117437256 [GRCh38]
Chr11:117307972 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1013T>C (p.Leu338Pro) single nucleotide variant not provided [RCV003021756] Chr11:117521330 [GRCh38]
Chr11:117392045 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-76C>G single nucleotide variant not provided [RCV002785986] Chr11:117797155 [GRCh38]
Chr11:117667870 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6133G>T (p.Ala2045Ser) single nucleotide variant not provided [RCV002593098] Chr11:117428357 [GRCh38]
Chr11:117299073 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4429C>T (p.Arg1477Trp) single nucleotide variant not provided [RCV002663099] Chr11:117437898 [GRCh38]
Chr11:117308614 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.131T>C (p.Val44Ala) single nucleotide variant not provided [RCV002592351] Chr11:117780726 [GRCh38]
Chr11:117651441 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4952A>T (p.Gln1651Leu) single nucleotide variant not provided [RCV002797388] Chr11:117433212 [GRCh38]
Chr11:117303928 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4018C>T (p.Arg1340Trp) single nucleotide variant not provided [RCV002593226] Chr11:117439392 [GRCh38]
Chr11:117310108 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3413-16T>C single nucleotide variant not provided [RCV002662846] Chr11:117458925 [GRCh38]
Chr11:117329641 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2031C>T (p.Thr677=) single nucleotide variant not provided [RCV002740361] Chr11:117505485 [GRCh38]
Chr11:117376200 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4379G>C (p.Ser1460Thr) single nucleotide variant not provided [RCV002695036] Chr11:117437948 [GRCh38]
Chr11:117308664 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4713C>T (p.Tyr1571=) single nucleotide variant not provided [RCV002620400] Chr11:117437129 [GRCh38]
Chr11:117307845 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2359+19C>T single nucleotide variant not provided [RCV002593050] Chr11:117503826 [GRCh38]
Chr11:117374541 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5300G>C (p.Arg1767Pro) single nucleotide variant not provided [RCV002825226] Chr11:117431608 [GRCh38]
Chr11:117302324 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5705C>T (p.Pro1902Leu) single nucleotide variant not provided [RCV003698981]|not specified [RCV004102569] Chr11:117428785 [GRCh38]
Chr11:117299501 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2517C>T (p.Ile839=) single nucleotide variant not provided [RCV002659226] Chr11:117482005 [GRCh38]
Chr11:117352720 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5889C>T (p.Ala1963=) single nucleotide variant not provided [RCV002638303]|not specified [RCV004907832] Chr11:117428601 [GRCh38]
Chr11:117299317 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2321G>A (p.Gly774Asp) single nucleotide variant not provided [RCV002705832] Chr11:117503883 [GRCh38]
Chr11:117374598 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3268C>T (p.Pro1090Ser) single nucleotide variant not provided [RCV002847546] Chr11:117461594 [GRCh38]
Chr11:117332310 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1077G>A (p.Glu359=) single nucleotide variant not provided [RCV002636576] Chr11:117521266 [GRCh38]
Chr11:117391981 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4498C>T (p.Leu1500=) single nucleotide variant not provided [RCV003035787] Chr11:117437344 [GRCh38]
Chr11:117308060 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4021C>A (p.Leu1341Ile) single nucleotide variant not provided [RCV002885689]|not specified [RCV004907799] Chr11:117439389 [GRCh38]
Chr11:117310105 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3025-11C>T single nucleotide variant not provided [RCV002781099] Chr11:117465193 [GRCh38]
Chr11:117335909 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.4625G>A (p.Arg1542Gln) single nucleotide variant not specified [RCV004238098] Chr11:117437217 [GRCh38]
Chr11:117307933 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.472G>A (p.Val158Ile) single nucleotide variant not provided [RCV002569525]|not specified [RCV004064307] Chr11:117776830 [GRCh38]
Chr11:117647545 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3266-6del deletion not provided [RCV002705930] Chr11:117461602 [GRCh38]
Chr11:117332318 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.4786G>A (p.Gly1596Ser) single nucleotide variant not provided [RCV002619968]|not specified [RCV004069080] Chr11:117435734 [GRCh38]
Chr11:117306450 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.644G>A (p.Arg215His) single nucleotide variant not provided [RCV002591655] Chr11:117532390 [GRCh38]
Chr11:117403105 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4600G>A (p.Gly1534Arg) single nucleotide variant not provided [RCV002619266] Chr11:117437242 [GRCh38]
Chr11:117307958 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4230C>T (p.Gly1410=) single nucleotide variant not provided [RCV002659495] Chr11:117438898 [GRCh38]
Chr11:117309614 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.73C>T (p.Leu25Phe) single nucleotide variant not provided [RCV002591100] Chr11:117780784 [GRCh38]
Chr11:117651499 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.47-17C>T single nucleotide variant not provided [RCV002638710] Chr11:117780827 [GRCh38]
Chr11:117651542 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2288G>T (p.Gly763Val) single nucleotide variant not provided [RCV002659071] Chr11:117503916 [GRCh38]
Chr11:117374631 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1021T>C (p.Ser341Pro) single nucleotide variant not provided [RCV002820919] Chr11:117521322 [GRCh38]
Chr11:117392037 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3435C>T (p.Ile1145=) single nucleotide variant not provided [RCV002620130] Chr11:117458887 [GRCh38]
Chr11:117329603 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2010C>T (p.Ile670=) single nucleotide variant not provided [RCV002910225] Chr11:117505506 [GRCh38]
Chr11:117376221 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5952C>A (p.Ala1984=) single nucleotide variant not provided [RCV002591400] Chr11:117428538 [GRCh38]
Chr11:117299254 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-77G>A single nucleotide variant not provided [RCV002756765] Chr11:117797156 [GRCh38]
Chr11:117667871 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2062+6C>T single nucleotide variant not provided [RCV002590594] Chr11:117505448 [GRCh38]
Chr11:117376163 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.686T>G (p.Leu229Arg) single nucleotide variant not provided [RCV002949149] Chr11:117525056 [GRCh38]
Chr11:117395771 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3990G>A (p.Ser1330=) single nucleotide variant not provided [RCV003080884] Chr11:117439420 [GRCh38]
Chr11:117310136 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.511+15G>A single nucleotide variant not provided [RCV002570950] Chr11:117776776 [GRCh38]
Chr11:117647491 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.993G>A (p.Thr331=) single nucleotide variant not provided [RCV003080712] Chr11:117521350 [GRCh38]
Chr11:117392065 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2331C>T (p.Ile777=) single nucleotide variant not provided [RCV002949482] Chr11:117503873 [GRCh38]
Chr11:117374588 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4433-10G>A single nucleotide variant not provided [RCV002886217] Chr11:117437419 [GRCh38]
Chr11:117308135 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3987C>G (p.Asp1329Glu) single nucleotide variant not provided [RCV002695833] Chr11:117439423 [GRCh38]
Chr11:117310139 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4227G>T (p.Gly1409=) single nucleotide variant not provided [RCV002927204] Chr11:117438901 [GRCh38]
Chr11:117309617 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3769C>T (p.Arg1257Cys) single nucleotide variant not provided [RCV002639921] Chr11:117443979 [GRCh38]
Chr11:117314695 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.377C>G (p.Pro126Arg) single nucleotide variant not provided [RCV002735853] Chr11:117776925 [GRCh38]
Chr11:117647640 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2415G>A (p.Ala805=) single nucleotide variant not provided [RCV002592780] Chr11:117482107 [GRCh38]
Chr11:117352822 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4634C>T (p.Thr1545Met) single nucleotide variant not provided [RCV002913917] Chr11:117437208 [GRCh38]
Chr11:117307924 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.271G>A (p.Ala91Thr) single nucleotide variant not provided [RCV002639970] Chr11:117780586 [GRCh38]
Chr11:117651301 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.385G>A (p.Val129Ile) single nucleotide variant not provided [RCV002591948] Chr11:117776917 [GRCh38]
Chr11:117647632 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1299C>T (p.Gly433=) single nucleotide variant not provided [RCV002639605] Chr11:117518677 [GRCh38]
Chr11:117389392 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2761G>A (p.Asp921Asn) single nucleotide variant not provided [RCV002569809] Chr11:117480467 [GRCh38]
Chr11:117351182 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4907+11C>A single nucleotide variant not provided [RCV002638808] Chr11:117433430 [GRCh38]
Chr11:117304146 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4433A>G (p.Glu1478Gly) single nucleotide variant not provided [RCV002636345] Chr11:117437409 [GRCh38]
Chr11:117308125 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2941A>G (p.Thr981Ala) single nucleotide variant not provided [RCV003100493] Chr11:117471881 [GRCh38]
Chr11:117342596 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3445C>A (p.Arg1149=) single nucleotide variant not provided [RCV002979632] Chr11:117458877 [GRCh38]
Chr11:117329593 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3093C>T (p.Pro1031=) single nucleotide variant not provided [RCV003002654] Chr11:117465114 [GRCh38]
Chr11:117335830 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.612T>C (p.Tyr204=) single nucleotide variant not provided [RCV003079108] Chr11:117532422 [GRCh38]
Chr11:117403137 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1245C>T (p.Ser415=) single nucleotide variant not provided [RCV002639831] Chr11:117518731 [GRCh38]
Chr11:117389446 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1214-12C>T single nucleotide variant not provided [RCV002622665] Chr11:117518774 [GRCh38]
Chr11:117389489 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4481C>T (p.Thr1494Met) single nucleotide variant not provided [RCV002591536] Chr11:117437361 [GRCh38]
Chr11:117308077 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5500T>C (p.Cys1834Arg) single nucleotide variant not provided [RCV002926765] Chr11:117430908 [GRCh38]
Chr11:117301624 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.790C>T (p.Arg264Trp) single nucleotide variant not provided [RCV002756954] Chr11:117524952 [GRCh38]
Chr11:117395667 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.671C>T (p.Ser224Leu) single nucleotide variant not provided [RCV002886407] Chr11:117525071 [GRCh38]
Chr11:117395786 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2144G>A (p.Gly715Asp) single nucleotide variant not provided [RCV003054841] Chr11:117504962 [GRCh38]
Chr11:117375677 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6025G>A (p.Glu2009Lys) single nucleotide variant not provided [RCV002999183] Chr11:117428465 [GRCh38]
Chr11:117299181 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2532C>G (p.Asn844Lys) single nucleotide variant not provided [RCV002796772] Chr11:117481990 [GRCh38]
Chr11:117352705 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4931C>A (p.Thr1644Asn) single nucleotide variant not specified [RCV004112241] Chr11:117433233 [GRCh38]
Chr11:117303949 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.117797248G>A single nucleotide variant not provided [RCV002846932] Chr11:117797248 [GRCh38]
Chr11:117667963 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1880G>A (p.Arg627His) single nucleotide variant not provided [RCV002636650] Chr11:117505636 [GRCh38]
Chr11:117376351 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4783A>G (p.Ile1595Val) single nucleotide variant not provided [RCV002910202] Chr11:117435737 [GRCh38]
Chr11:117306453 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3750C>T (p.Tyr1250=) single nucleotide variant not provided [RCV002824876] Chr11:117443998 [GRCh38]
Chr11:117314714 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4430G>A (p.Arg1477Gln) single nucleotide variant not provided [RCV002639378]|not specified [RCV004066731] Chr11:117437897 [GRCh38]
Chr11:117308613 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2931C>G (p.Leu977=) single nucleotide variant not provided [RCV002695471] Chr11:117471891 [GRCh38]
Chr11:117342606 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3846C>T (p.Ile1282=) single nucleotide variant not provided [RCV002952352] Chr11:117443902 [GRCh38]
Chr11:117314618 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3513C>T (p.Thr1171=) single nucleotide variant not provided [RCV002621871] Chr11:117458809 [GRCh38]
Chr11:117329525 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3528C>T (p.Gly1176=) single nucleotide variant not provided [RCV002639590] Chr11:117458794 [GRCh38]
Chr11:117329510 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4429C>A (p.Arg1477=) single nucleotide variant not provided [RCV002706678] Chr11:117437898 [GRCh38]
Chr11:117308614 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5938C>A (p.Pro1980Thr) single nucleotide variant not provided [RCV002590753] Chr11:117428552 [GRCh38]
Chr11:117299268 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.195C>T (p.Asp65=) single nucleotide variant not provided [RCV002785542] Chr11:117780662 [GRCh38]
Chr11:117651377 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.541G>A (p.Gly181Arg) single nucleotide variant not provided [RCV002574860]|not specified [RCV004064310] Chr11:117532493 [GRCh38]
Chr11:117403208 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1183G>A (p.Ala395Thr) single nucleotide variant not provided [RCV003078501] Chr11:117521160 [GRCh38]
Chr11:117391875 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4465A>G (p.Thr1489Ala) single nucleotide variant not provided [RCV002603600]|not specified [RCV004069050] Chr11:117437377 [GRCh38]
Chr11:117308093 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3345G>A (p.Pro1115=) single nucleotide variant not provided [RCV002780920] Chr11:117461517 [GRCh38]
Chr11:117332233 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3801C>T (p.Ala1267=) single nucleotide variant not provided [RCV003019053] Chr11:117443947 [GRCh38]
Chr11:117314663 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5179+3A>G single nucleotide variant not provided [RCV002823764] Chr11:117432349 [GRCh38]
Chr11:117303065 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3234C>A (p.Ser1078=) single nucleotide variant not provided [RCV002591738] Chr11:117464973 [GRCh38]
Chr11:117335689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2447G>T (p.Arg816Leu) single nucleotide variant not provided [RCV003080854] Chr11:117482075 [GRCh38]
Chr11:117352790 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1784-17C>T single nucleotide variant not provided [RCV003035366] Chr11:117505749 [GRCh38]
Chr11:117376464 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2560-20C>G single nucleotide variant not provided [RCV003020069] Chr11:117481290 [GRCh38]
Chr11:117352005 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.947A>G (p.His316Arg) single nucleotide variant not provided [RCV002791323] Chr11:117521396 [GRCh38]
Chr11:117392111 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6014C>A (p.Ala2005Asp) single nucleotide variant not provided [RCV002576312] Chr11:117428476 [GRCh38]
Chr11:117299192 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001367905.1(DSCAML1):c.-362-16426_-362-16400del deletion not provided [RCV002645777] Chr11:117797210..117797236 [GRCh38]
Chr11:117667925..117667951 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2493T>G (p.Pro831=) single nucleotide variant not provided [RCV003039874] Chr11:117482029 [GRCh38]
Chr11:117352744 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2063-12C>T single nucleotide variant not provided [RCV003023450] Chr11:117505055 [GRCh38]
Chr11:117375770 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1207C>T (p.Leu403Phe) single nucleotide variant not provided [RCV002626182]|not specified [RCV004065856] Chr11:117521136 [GRCh38]
Chr11:117391851 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1332C>A (p.Asp444Glu) single nucleotide variant not provided [RCV003008124] Chr11:117518644 [GRCh38]
Chr11:117389359 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1390G>A (p.Gly464Ser) single nucleotide variant not provided [RCV002959126] Chr11:117518586 [GRCh38]
Chr11:117389301 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1283T>C (p.Met428Thr) single nucleotide variant not provided [RCV002851493] Chr11:117518693 [GRCh38]
Chr11:117389408 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5900C>T (p.Ala1967Val) single nucleotide variant not provided [RCV002853049] Chr11:117428590 [GRCh38]
Chr11:117299306 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3401A>G (p.Tyr1134Cys) single nucleotide variant not provided [RCV002645608] Chr11:117461461 [GRCh38]
Chr11:117332177 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3980+11G>A single nucleotide variant not provided [RCV002596883] Chr11:117439808 [GRCh38]
Chr11:117310524 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1214-11G>A single nucleotide variant not provided [RCV002594315] Chr11:117518773 [GRCh38]
Chr11:117389488 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4757G>T (p.Gly1586Val) single nucleotide variant not specified [RCV004134524] Chr11:117435763 [GRCh38]
Chr11:117306479 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4276G>A (p.Glu1426Lys) single nucleotide variant not provided [RCV002596396] Chr11:117438051 [GRCh38]
Chr11:117308767 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4151del (p.Pro1384fs) deletion not provided [RCV002894637] Chr11:117438977 [GRCh38]
Chr11:117309693 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5310C>A (p.Gly1770=) single nucleotide variant not provided [RCV002894047] Chr11:117431598 [GRCh38]
Chr11:117302314 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2314G>A (p.Gly772Ser) single nucleotide variant not provided [RCV002700992] Chr11:117503890 [GRCh38]
Chr11:117374605 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.46+17C>T single nucleotide variant not provided [RCV002575978] Chr11:117797017 [GRCh38]
Chr11:117667732 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.34T>A (p.Ser12Thr) single nucleotide variant not provided [RCV002853237] Chr11:117797046 [GRCh38]
Chr11:117667761 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2891C>G (p.Ser964Cys) single nucleotide variant not provided [RCV002786737]|not specified [RCV004064804] Chr11:117471931 [GRCh38]
Chr11:117342646 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2544C>T (p.Val848=) single nucleotide variant not provided [RCV002593977] Chr11:117481978 [GRCh38]
Chr11:117352693 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3413-9C>G single nucleotide variant not provided [RCV003058948] Chr11:117458918 [GRCh38]
Chr11:117329634 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2991A>G (p.Pro997=) single nucleotide variant not provided [RCV002627249] Chr11:117469943 [GRCh38]
Chr11:117340659 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2269G>A (p.Val757Ile) single nucleotide variant not provided [RCV002576099] Chr11:117503935 [GRCh38]
Chr11:117374650 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1364G>A (p.Arg455His) single nucleotide variant not provided [RCV002933174] Chr11:117518612 [GRCh38]
Chr11:117389327 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3728C>G (p.Thr1243Arg) single nucleotide variant not provided [RCV002645742] Chr11:117444020 [GRCh38]
Chr11:117314736 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3024+18A>G single nucleotide variant not provided [RCV002626121] Chr11:117469892 [GRCh38]
Chr11:117340608 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4816G>A (p.Val1606Met) single nucleotide variant not provided [RCV002914660]|not specified [RCV004617118] Chr11:117435704 [GRCh38]
Chr11:117306420 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1289C>T (p.Ala430Val) single nucleotide variant not provided [RCV002625516] Chr11:117518687 [GRCh38]
Chr11:117389402 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4811T>A (p.Leu1604Gln) single nucleotide variant not specified [RCV004130285] Chr11:117435709 [GRCh38]
Chr11:117306425 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1213+12C>T single nucleotide variant not provided [RCV002627093] Chr11:117521118 [GRCh38]
Chr11:117391833 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.937+15C>T single nucleotide variant not provided [RCV003040483] Chr11:117524790 [GRCh38]
Chr11:117395505 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4155C>T (p.Asp1385=) single nucleotide variant not provided [RCV002786509] Chr11:117438973 [GRCh38]
Chr11:117309689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1008T>C (p.Cys336=) single nucleotide variant not provided [RCV003042210] Chr11:117521335 [GRCh38]
Chr11:117392050 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.802G>C (p.Ala268Pro) single nucleotide variant not provided [RCV002954221]|not specified [RCV004068157] Chr11:117524940 [GRCh38]
Chr11:117395655 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2359+3G>A single nucleotide variant not provided [RCV002891042] Chr11:117503842 [GRCh38]
Chr11:117374557 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6085G>A (p.Glu2029Lys) single nucleotide variant not provided [RCV002595094]|not specified [RCV004068802] Chr11:117428405 [GRCh38]
Chr11:117299121 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3980+4T>C single nucleotide variant not provided [RCV002710234] Chr11:117439815 [GRCh38]
Chr11:117310531 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1310C>T (p.Pro437Leu) single nucleotide variant not provided [RCV002624604] Chr11:117518666 [GRCh38]
Chr11:117389381 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3094G>A (p.Gly1032Ser) single nucleotide variant not provided [RCV003082729]|not specified [RCV004617195] Chr11:117465113 [GRCh38]
Chr11:117335829 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1776C>T (p.Ala592=) single nucleotide variant not provided [RCV002574450] Chr11:117516474 [GRCh38]
Chr11:117387189 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1056G>A (p.Thr352=) single nucleotide variant not provided [RCV002643697] Chr11:117521287 [GRCh38]
Chr11:117392002 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4704C>G (p.Thr1568=) single nucleotide variant not provided [RCV003022534] Chr11:117437138 [GRCh38]
Chr11:117307854 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.87T>C (p.Asn29=) single nucleotide variant not provided [RCV002594150] Chr11:117780770 [GRCh38]
Chr11:117651485 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5727CTT[1] (p.Phe1911del) microsatellite not provided [RCV002851325] Chr11:117428758..117428760 [GRCh38]
Chr11:117299474..117299476 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.332A>G (p.Lys111Arg) single nucleotide variant not provided [RCV002594159] Chr11:117780525 [GRCh38]
Chr11:117651240 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5186T>C (p.Val1729Ala) single nucleotide variant not provided [RCV002710303] Chr11:117431722 [GRCh38]
Chr11:117302438 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4649G>A (p.Arg1550His) single nucleotide variant not provided [RCV002573792] Chr11:117437193 [GRCh38]
Chr11:117307909 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3988T>G (p.Ser1330Ala) single nucleotide variant not provided [RCV002765736] Chr11:117439422 [GRCh38]
Chr11:117310138 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.167C>T (p.Ala56Val) single nucleotide variant not provided [RCV002825678] Chr11:117780690 [GRCh38]
Chr11:117651405 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.824G>C (p.Arg275Pro) single nucleotide variant not provided [RCV002593502] Chr11:117524918 [GRCh38]
Chr11:117395633 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.573C>T (p.Asp191=) single nucleotide variant not provided [RCV002624352] Chr11:117532461 [GRCh38]
Chr11:117403176 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5038G>A (p.Ala1680Thr) single nucleotide variant not provided [RCV003082879]|not specified [RCV004073244] Chr11:117432493 [GRCh38]
Chr11:117303209 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2090A>T (p.Asn697Ile) single nucleotide variant not provided [RCV002643166] Chr11:117505016 [GRCh38]
Chr11:117375731 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.267C>T (p.Pro89=) single nucleotide variant not provided [RCV002623356] Chr11:117780590 [GRCh38]
Chr11:117651305 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.5466G>A (p.Glu1822=) single nucleotide variant not provided [RCV002745257] Chr11:117430942 [GRCh38]
Chr11:117301658 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1264G>A (p.Gly422Arg) single nucleotide variant not provided [RCV002596771] Chr11:117518712 [GRCh38]
Chr11:117389427 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2734G>A (p.Asp912Asn) single nucleotide variant not provided [RCV002596993] Chr11:117480494 [GRCh38]
Chr11:117351209 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.13A>G (p.Thr5Ala) single nucleotide variant not provided [RCV002594970] Chr11:117797067 [GRCh38]
Chr11:117667782 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.364+5G>A single nucleotide variant not provided [RCV002852696] Chr11:117780488 [GRCh38]
Chr11:117651203 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.471C>T (p.Ser157=) single nucleotide variant not provided [RCV002596795] Chr11:117776831 [GRCh38]
Chr11:117647546 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3708+10T>C single nucleotide variant not provided [RCV002872752] Chr11:117450539 [GRCh38]
Chr11:117321255 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1414G>A (p.Val472Ile) single nucleotide variant not provided [RCV002643623] Chr11:117518562 [GRCh38]
Chr11:117389277 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2736C>T (p.Asp912=) single nucleotide variant not provided [RCV003005170] Chr11:117480492 [GRCh38]
Chr11:117351207 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3694G>A (p.Gly1232Arg) single nucleotide variant not provided [RCV002624206] Chr11:117450563 [GRCh38]
Chr11:117321279 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1214-18G>T single nucleotide variant not provided [RCV002573823] Chr11:117518780 [GRCh38]
Chr11:117389495 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.10:g.117797218C>A single nucleotide variant not provided [RCV002667801] Chr11:117797218 [GRCh38]
Chr11:117667933 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1450C>T (p.Arg484Trp) single nucleotide variant not specified [RCV004124223] Chr11:117518526 [GRCh38]
Chr11:117389241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1365C>A (p.Arg455=) single nucleotide variant not provided [RCV002982867] Chr11:117518611 [GRCh38]
Chr11:117389326 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1343T>C (p.Ile448Thr) single nucleotide variant not provided [RCV002595732]|not specified [RCV004907826] Chr11:117518633 [GRCh38]
Chr11:117389348 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5653G>A (p.Val1885Met) single nucleotide variant not provided [RCV002667070] Chr11:117430755 [GRCh38]
Chr11:117301471 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3831C>T (p.Ser1277=) single nucleotide variant not provided [RCV002626307] Chr11:117443917 [GRCh38]
Chr11:117314633 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.538G>A (p.Gly180Ser) single nucleotide variant not provided [RCV002805551] Chr11:117532496 [GRCh38]
Chr11:117403211 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1437C>T (p.Asp479=) single nucleotide variant not provided [RCV002572863] Chr11:117518539 [GRCh38]
Chr11:117389254 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1470G>A (p.Leu490=) single nucleotide variant not provided [RCV002741906] Chr11:117518506 [GRCh38]
Chr11:117389221 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.185C>T (p.Ala62Val) single nucleotide variant not specified [RCV004143772] Chr11:117780672 [GRCh38]
Chr11:117651387 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5933C>A (p.Ala1978Asp) single nucleotide variant not provided [RCV002700352] Chr11:117428557 [GRCh38]
Chr11:117299273 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3981-11G>A single nucleotide variant not provided [RCV002790236] Chr11:117439440 [GRCh38]
Chr11:117310156 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.937+4A>G single nucleotide variant not provided [RCV002876061] Chr11:117524801 [GRCh38]
Chr11:117395516 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5547C>T (p.Asn1849=) single nucleotide variant not provided [RCV002596900] Chr11:117430861 [GRCh38]
Chr11:117301577 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4885A>T (p.Ser1629Cys) single nucleotide variant not provided [RCV003040644] Chr11:117433463 [GRCh38]
Chr11:117304179 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2701C>T (p.Arg901Trp) single nucleotide variant not provided [RCV002594649] Chr11:117480527 [GRCh38]
Chr11:117351242 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.116G>C (p.Ser39Thr) single nucleotide variant not specified [RCV004155693] Chr11:117780741 [GRCh38]
Chr11:117651456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.883G>A (p.Glu295Lys) single nucleotide variant not provided [RCV003042070] Chr11:117524859 [GRCh38]
Chr11:117395574 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3567C>T (p.Asp1189=) single nucleotide variant not provided [RCV002932988] Chr11:117458755 [GRCh38]
Chr11:117329471 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2487C>T (p.Ile829=) single nucleotide variant not provided [RCV002710385] Chr11:117482035 [GRCh38]
Chr11:117352750 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1170C>T (p.Arg390=) single nucleotide variant not provided [RCV002851872] Chr11:117521173 [GRCh38]
Chr11:117391888 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4712A>G (p.Tyr1571Cys) single nucleotide variant not provided [RCV002852344] Chr11:117437130 [GRCh38]
Chr11:117307846 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2359+14C>T single nucleotide variant not provided [RCV002626417] Chr11:117503831 [GRCh38]
Chr11:117374546 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.279T>C (p.Asn93=) single nucleotide variant not provided [RCV002851667] Chr11:117780578 [GRCh38]
Chr11:117651293 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4263G>A (p.Ser1421=) single nucleotide variant not provided [RCV002931837] Chr11:117438064 [GRCh38]
Chr11:117308780 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2360-3C>G single nucleotide variant not provided [RCV002663221] Chr11:117482165 [GRCh38]
Chr11:117352880 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1309C>T (p.Pro437Ser) single nucleotide variant not provided [RCV002790625] Chr11:117518667 [GRCh38]
Chr11:117389382 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2364G>A (p.Pro788=) single nucleotide variant not provided [RCV002800893] Chr11:117482158 [GRCh38]
Chr11:117352873 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5790C>G (p.Ile1930Met) single nucleotide variant not provided [RCV002957867]|not specified [RCV004067293] Chr11:117428700 [GRCh38]
Chr11:117299416 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5123C>T (p.Thr1708Ile) single nucleotide variant not provided [RCV003025581] Chr11:117432408 [GRCh38]
Chr11:117303124 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5821G>A (p.Ala1941Thr) single nucleotide variant not provided [RCV002790176] Chr11:117428669 [GRCh38]
Chr11:117299385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.37T>C (p.Leu13=) single nucleotide variant not provided [RCV002853235] Chr11:117797043 [GRCh38]
Chr11:117667758 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5532G>A (p.Met1844Ile) single nucleotide variant not provided [RCV002801223] Chr11:117430876 [GRCh38]
Chr11:117301592 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4239C>G (p.Ile1413Met) single nucleotide variant not provided [RCV003730377]|not specified [RCV004230630] Chr11:117438889 [GRCh38]
Chr11:117309605 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.488A>G (p.Lys163Arg) single nucleotide variant not provided [RCV002711290] Chr11:117776814 [GRCh38]
Chr11:117647529 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1526G>A (p.Arg509Gln) single nucleotide variant not provided [RCV003025248] Chr11:117516724 [GRCh38]
Chr11:117387439 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.117797257C>T single nucleotide variant not provided [RCV003056507] Chr11:117797257 [GRCh38]
Chr11:117667972 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4585C>T (p.Arg1529Trp) single nucleotide variant not provided [RCV003083044] Chr11:117437257 [GRCh38]
Chr11:117307973 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5117A>T (p.His1706Leu) single nucleotide variant not provided [RCV002875756] Chr11:117432414 [GRCh38]
Chr11:117303130 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.937+3G>A single nucleotide variant not provided [RCV003005696] Chr11:117524802 [GRCh38]
Chr11:117395517 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1463G>A (p.Arg488Gln) single nucleotide variant not provided [RCV002623571] Chr11:117518513 [GRCh38]
Chr11:117389228 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4145-18G>A single nucleotide variant not provided [RCV002790888] Chr11:117439001 [GRCh38]
Chr11:117309717 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5634T>C (p.Asp1878=) single nucleotide variant not provided [RCV002642606] Chr11:117430774 [GRCh38]
Chr11:117301490 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3059G>A (p.Arg1020Gln) single nucleotide variant not provided [RCV002626530] Chr11:117465148 [GRCh38]
Chr11:117335864 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1413C>T (p.Asn471=) single nucleotide variant not provided [RCV002593757] Chr11:117518563 [GRCh38]
Chr11:117389278 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3676A>G (p.Ile1226Val) single nucleotide variant not provided [RCV002766554] Chr11:117450581 [GRCh38]
Chr11:117321297 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.241A>G (p.Thr81Ala) single nucleotide variant not provided [RCV003042301] Chr11:117780616 [GRCh38]
Chr11:117651331 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.938-24_938-13del deletion not provided [RCV003043005] Chr11:117521418..117521429 [GRCh38]
Chr11:117392133..117392144 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3741G>A (p.Gln1247=) single nucleotide variant not provided [RCV002642654] Chr11:117444007 [GRCh38]
Chr11:117314723 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3844A>G (p.Ile1282Val) single nucleotide variant not provided [RCV002595721] Chr11:117443904 [GRCh38]
Chr11:117314620 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-57G>A single nucleotide variant not provided [RCV003084729] Chr11:117797136 [GRCh38]
Chr11:117667851 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4145-4A>G single nucleotide variant not provided [RCV003024040] Chr11:117438987 [GRCh38]
Chr11:117309703 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6044G>A (p.Gly2015Asp) single nucleotide variant not provided [RCV003084733] Chr11:117428446 [GRCh38]
Chr11:117299162 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1762A>C (p.Ser588Arg) single nucleotide variant not provided [RCV002700759] Chr11:117516488 [GRCh38]
Chr11:117387203 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3980+4T>A single nucleotide variant not provided [RCV002596572] Chr11:117439815 [GRCh38]
Chr11:117310531 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1344C>T (p.Ile448=) single nucleotide variant not provided [RCV002623666] Chr11:117518632 [GRCh38]
Chr11:117389347 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2813G>A (p.Arg938His) single nucleotide variant not provided [RCV002595321] Chr11:117472009 [GRCh38]
Chr11:117342724 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2953+12A>C single nucleotide variant not provided [RCV002663700] Chr11:117471857 [GRCh38]
Chr11:117342572 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2153C>A (p.Pro718Gln) single nucleotide variant not provided [RCV002593925] Chr11:117504953 [GRCh38]
Chr11:117375668 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.440T>C (p.Leu147Pro) single nucleotide variant not provided [RCV002954338] Chr11:117776862 [GRCh38]
Chr11:117647577 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4444A>G (p.Ser1482Gly) single nucleotide variant not provided [RCV002917814] Chr11:117437398 [GRCh38]
Chr11:117308114 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1604C>T (p.Ser535Phe) single nucleotide variant not provided [RCV003084436]|not specified [RCV004073139] Chr11:117516646 [GRCh38]
Chr11:117387361 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_020693.4(DSCAML1):c.1434C>T (p.Arg478=) single nucleotide variant not provided [RCV002982962] Chr11:117518542 [GRCh38]
Chr11:117389257 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.744C>T (p.Thr248=) single nucleotide variant not provided [RCV002623342] Chr11:117524998 [GRCh38]
Chr11:117395713 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.70A>G (p.Ser24Gly) single nucleotide variant not specified [RCV004108069] Chr11:117780787 [GRCh38]
Chr11:117651502 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2967C>T (p.Pro989=) single nucleotide variant not provided [RCV002643912] Chr11:117469967 [GRCh38]
Chr11:117340683 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2619T>C (p.Tyr873=) single nucleotide variant not provided [RCV002875688] Chr11:117481211 [GRCh38]
Chr11:117351926 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3772G>A (p.Gly1258Ser) single nucleotide variant not provided [RCV002572842] Chr11:117443976 [GRCh38]
Chr11:117314692 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.812G>A (p.Arg271His) single nucleotide variant not provided [RCV002966973]|not specified [RCV004907805] Chr11:117524930 [GRCh38]
Chr11:117395645 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5892C>T (p.Ala1964=) single nucleotide variant not provided [RCV003047121] Chr11:117428598 [GRCh38]
Chr11:117299314 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3569-11T>A single nucleotide variant not provided [RCV002720934] Chr11:117450699 [GRCh38]
Chr11:117321415 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4860G>C (p.Arg1620=) single nucleotide variant not provided [RCV002720959] Chr11:117435660 [GRCh38]
Chr11:117306376 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4772A>T (p.Lys1591Met) single nucleotide variant not provided [RCV002649856] Chr11:117435748 [GRCh38]
Chr11:117306464 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3760C>T (p.His1254Tyr) single nucleotide variant not provided [RCV002811513] Chr11:117443988 [GRCh38]
Chr11:117314704 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4249G>A (p.Val1417Met) single nucleotide variant not provided [RCV002629382] Chr11:117438078 [GRCh38]
Chr11:117308794 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4478C>G (p.Ser1493Cys) single nucleotide variant not provided [RCV002900102] Chr11:117437364 [GRCh38]
Chr11:117308080 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2183-20T>C single nucleotide variant not provided [RCV003048182] Chr11:117504041 [GRCh38]
Chr11:117374756 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3466G>C (p.Gly1156Arg) single nucleotide variant not provided [RCV002941944] Chr11:117458856 [GRCh38]
Chr11:117329572 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.826A>G (p.Ile276Val) single nucleotide variant not specified [RCV004154529] Chr11:117524916 [GRCh38]
Chr11:117395631 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6129C>T (p.Ala2043=) single nucleotide variant not provided [RCV002628779] Chr11:117428361 [GRCh38]
Chr11:117299077 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1770C>T (p.His590=) single nucleotide variant not provided [RCV002577818] Chr11:117516480 [GRCh38]
Chr11:117387195 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3664C>T (p.Arg1222Cys) single nucleotide variant not provided [RCV002966230] Chr11:117450593 [GRCh38]
Chr11:117321309 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2657-9G>A single nucleotide variant not provided [RCV002602874] Chr11:117480580 [GRCh38]
Chr11:117351295 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4531A>T (p.Thr1511Ser) single nucleotide variant not provided [RCV002632901] Chr11:117437311 [GRCh38]
Chr11:117308027 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3734C>G (p.Pro1245Arg) single nucleotide variant not provided [RCV002715148] Chr11:117444014 [GRCh38]
Chr11:117314730 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4970T>C (p.Ile1657Thr) single nucleotide variant not provided [RCV002922830] Chr11:117433194 [GRCh38]
Chr11:117303910 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4003T>C (p.Ser1335Pro) single nucleotide variant not provided [RCV003063103] Chr11:117439407 [GRCh38]
Chr11:117310123 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2360-3dup duplication not provided [RCV002632778] Chr11:117482164..117482165 [GRCh38]
Chr11:117352879..117352880 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.4120A>G (p.Ile1374Val) single nucleotide variant not provided [RCV003045240] Chr11:117439290 [GRCh38]
Chr11:117310006 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3025-20C>T single nucleotide variant not provided [RCV002578578] Chr11:117465202 [GRCh38]
Chr11:117335918 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.273C>T (p.Ala91=) single nucleotide variant not provided [RCV002632814] Chr11:117780584 [GRCh38]
Chr11:117651299 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-105G>C single nucleotide variant not provided [RCV002650394] Chr11:117797184 [GRCh38]
Chr11:117667899 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.153C>A (p.Gly51=) single nucleotide variant not provided [RCV003090453] Chr11:117780704 [GRCh38]
Chr11:117651419 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5044A>G (p.Ile1682Val) single nucleotide variant not provided [RCV002576525] Chr11:117432487 [GRCh38]
Chr11:117303203 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.3(DSCAML1):c.41C>T (p.Pro14Leu) single nucleotide variant not provided [RCV003087695]|not specified [RCV004917820] Chr11:117797219 [GRCh38]
Chr11:117667934 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5027-12T>G single nucleotide variant not provided [RCV003031495] Chr11:117432516 [GRCh38]
Chr11:117303232 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3489C>T (p.Tyr1163=) single nucleotide variant not provided [RCV002649793] Chr11:117458833 [GRCh38]
Chr11:117329549 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5152G>A (p.Asp1718Asn) single nucleotide variant not specified [RCV004112753] Chr11:117432379 [GRCh38]
Chr11:117303095 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.845G>A (p.Ser282Asn) single nucleotide variant not provided [RCV003091703] Chr11:117524897 [GRCh38]
Chr11:117395612 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-125G>T single nucleotide variant not provided [RCV002646389] Chr11:117797204 [GRCh38]
Chr11:117667919 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1371C>T (p.Asn457=) single nucleotide variant not provided [RCV002629124] Chr11:117518605 [GRCh38]
Chr11:117389320 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5900C>A (p.Ala1967Asp) single nucleotide variant not provided [RCV002628357]|not specified [RCV004070577] Chr11:117428590 [GRCh38]
Chr11:117299306 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1765G>A (p.Val589Ile) single nucleotide variant not provided [RCV002770885]|not specified [RCV004064746] Chr11:117516485 [GRCh38]
Chr11:117387200 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1969T>C (p.Ser657Pro) single nucleotide variant not provided [RCV003044752] Chr11:117505547 [GRCh38]
Chr11:117376262 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5868C>T (p.Pro1956=) single nucleotide variant not provided [RCV002597725] Chr11:117428622 [GRCh38]
Chr11:117299338 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.150G>A (p.Ala50=) single nucleotide variant not provided [RCV002629144] Chr11:117780707 [GRCh38]
Chr11:117651422 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_020693.4(DSCAML1):c.1611G>C (p.Lys537Asn) single nucleotide variant not provided [RCV003046214] Chr11:117516639 [GRCh38]
Chr11:117387354 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5916G>T (p.Arg1972Ser) single nucleotide variant not provided [RCV002628088]|not specified [RCV004070546] Chr11:117428574 [GRCh38]
Chr11:117299290 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3048C>T (p.Asn1016=) single nucleotide variant not provided [RCV003011023] Chr11:117465159 [GRCh38]
Chr11:117335875 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3198C>A (p.Val1066=) single nucleotide variant not provided [RCV002856630] Chr11:117465009 [GRCh38]
Chr11:117335725 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5160T>G (p.Ser1720=) single nucleotide variant not provided [RCV002806303] Chr11:117432371 [GRCh38]
Chr11:117303087 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3802G>A (p.Val1268Ile) single nucleotide variant not provided [RCV003062979] Chr11:117443946 [GRCh38]
Chr11:117314662 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6100G>A (p.Gly2034Arg) single nucleotide variant not provided [RCV002671856]|not specified [RCV004066902] Chr11:117428390 [GRCh38]
Chr11:117299106 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3130G>A (p.Ala1044Thr) single nucleotide variant not provided [RCV002963304] Chr11:117465077 [GRCh38]
Chr11:117335793 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3178G>T (p.Ala1060Ser) single nucleotide variant not provided [RCV002895357]|not specified [RCV004065993] Chr11:117465029 [GRCh38]
Chr11:117335745 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2765T>C (p.Ile922Thr) single nucleotide variant not specified [RCV004160982] Chr11:117480463 [GRCh38]
Chr11:117351178 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6134C>T (p.Ala2045Val) single nucleotide variant not provided [RCV002922148]|not specified [RCV004066295] Chr11:117428356 [GRCh38]
Chr11:117299072 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5879C>A (p.Ala1960Asp) single nucleotide variant not provided [RCV002962620] Chr11:117428611 [GRCh38]
Chr11:117299327 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.774C>T (p.Arg258=) single nucleotide variant not provided [RCV002898719] Chr11:117524968 [GRCh38]
Chr11:117395683 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2127C>T (p.Leu709=) single nucleotide variant not provided [RCV002600152] Chr11:117504979 [GRCh38]
Chr11:117375694 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1884C>T (p.Ile628=) single nucleotide variant not provided [RCV002834739] Chr11:117505632 [GRCh38]
Chr11:117376347 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4617G>A (p.Thr1539=) single nucleotide variant not provided [RCV002578970] Chr11:117437225 [GRCh38]
Chr11:117307941 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2159A>G (p.Lys720Arg) single nucleotide variant not provided [RCV002963168]|not specified [RCV004065070] Chr11:117504947 [GRCh38]
Chr11:117375662 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_020693.4(DSCAML1):c.2182+16A>G single nucleotide variant not provided [RCV002600330] Chr11:117504908 [GRCh38]
Chr11:117375623 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6011C>T (p.Pro2004Leu) single nucleotide variant not provided [RCV002649357] Chr11:117428479 [GRCh38]
Chr11:117299195 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3752G>A (p.Arg1251Gln) single nucleotide variant not provided [RCV002630480] Chr11:117443996 [GRCh38]
Chr11:117314712 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5676G>A (p.Arg1892=) single nucleotide variant not provided [RCV002810103] Chr11:117430732 [GRCh38]
Chr11:117301448 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1659G>A (p.Val553=) single nucleotide variant not provided [RCV002715475] Chr11:117516591 [GRCh38]
Chr11:117387306 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2846T>C (p.Ile949Thr) single nucleotide variant not provided [RCV002962184] Chr11:117471976 [GRCh38]
Chr11:117342691 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2216C>T (p.Pro739Leu) single nucleotide variant not provided [RCV002646084] Chr11:117503988 [GRCh38]
Chr11:117374703 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2664C>T (p.Pro888=) single nucleotide variant not provided [RCV002922884] Chr11:117480564 [GRCh38]
Chr11:117351279 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-121G>A single nucleotide variant not provided [RCV003088790] Chr11:117797200 [GRCh38]
Chr11:117667915 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5278C>T (p.Arg1760Cys) single nucleotide variant not provided [RCV002627644] Chr11:117431630 [GRCh38]
Chr11:117302346 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2117C>T (p.Ala706Val) single nucleotide variant not provided [RCV002599741] Chr11:117504989 [GRCh38]
Chr11:117375704 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2702G>A (p.Arg901Gln) single nucleotide variant not provided [RCV003088541]|not specified [RCV004617197] Chr11:117480526 [GRCh38]
Chr11:117351241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3989C>T (p.Ser1330Leu) single nucleotide variant not provided [RCV003088552] Chr11:117439421 [GRCh38]
Chr11:117310137 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.879T>C (p.Ile293=) single nucleotide variant not provided [RCV002597692] Chr11:117524863 [GRCh38]
Chr11:117395578 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6060G>A (p.Met2020Ile) single nucleotide variant not provided [RCV002599683] Chr11:117428430 [GRCh38]
Chr11:117299146 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5293G>A (p.Asp1765Asn) single nucleotide variant not provided [RCV002806067] Chr11:117431615 [GRCh38]
Chr11:117302331 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1422C>T (p.Gly474=) single nucleotide variant not provided [RCV002856187] Chr11:117518554 [GRCh38]
Chr11:117389269 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3897G>A (p.Val1299=) single nucleotide variant not provided [RCV003043890] Chr11:117439902 [GRCh38]
Chr11:117310618 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4648C>T (p.Arg1550Cys) single nucleotide variant not provided [RCV002576853] Chr11:117437194 [GRCh38]
Chr11:117307910 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4356G>A (p.Lys1452=) single nucleotide variant not provided [RCV002598762] Chr11:117437971 [GRCh38]
Chr11:117308687 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3413-11G>T single nucleotide variant not provided [RCV002962348] Chr11:117458920 [GRCh38]
Chr11:117329636 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5595C>T (p.Gly1865=) single nucleotide variant not provided [RCV002601147] Chr11:117430813 [GRCh38]
Chr11:117301529 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4426G>A (p.Gly1476Arg) single nucleotide variant not provided [RCV002877316] Chr11:117437901 [GRCh38]
Chr11:117308617 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.292G>C (p.Asp98His) single nucleotide variant not provided [RCV003061879] Chr11:117780565 [GRCh38]
Chr11:117651280 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2530A>G (p.Asn844Asp) single nucleotide variant not provided [RCV002631576] Chr11:117481992 [GRCh38]
Chr11:117352707 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5255A>G (p.Lys1752Arg) single nucleotide variant not provided [RCV002649979] Chr11:117431653 [GRCh38]
Chr11:117302369 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4721G>C (p.Ser1574Thr) single nucleotide variant not provided [RCV002598304] Chr11:117435799 [GRCh38]
Chr11:117306515 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-101C>T single nucleotide variant not provided [RCV002601218]|not specified [RCV004065635] Chr11:117797180 [GRCh38]
Chr11:117667895 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.626G>A (p.Arg209Gln) single nucleotide variant not provided [RCV002647020] Chr11:117532408 [GRCh38]
Chr11:117403123 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4794T>C (p.Pro1598=) single nucleotide variant not provided [RCV002599510] Chr11:117435726 [GRCh38]
Chr11:117306442 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1183G>T (p.Ala395Ser) single nucleotide variant not provided [RCV002631945] Chr11:117521160 [GRCh38]
Chr11:117391875 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4721-16C>A single nucleotide variant not provided [RCV002675570] Chr11:117435815 [GRCh38]
Chr11:117306531 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4859G>A (p.Arg1620Gln) single nucleotide variant not specified [RCV004135247] Chr11:117435661 [GRCh38]
Chr11:117306377 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.511+7A>C single nucleotide variant DSCAML1-related disorder [RCV004753634]|not provided [RCV002599993] Chr11:117776784 [GRCh38]
Chr11:117647499 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4698C>T (p.Phe1566=) single nucleotide variant not provided [RCV002631171] Chr11:117437144 [GRCh38]
Chr11:117307860 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.536A>G (p.His179Arg) single nucleotide variant not provided [RCV002810316] Chr11:117532498 [GRCh38]
Chr11:117403213 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.222G>C (p.Arg74=) single nucleotide variant not provided [RCV002631196] Chr11:117780635 [GRCh38]
Chr11:117651350 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5321G>T (p.Gly1774Val) single nucleotide variant not provided [RCV003089447]|not specified [RCV004917821] Chr11:117431587 [GRCh38]
Chr11:117302303 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3640C>G (p.Pro1214Ala) single nucleotide variant not specified [RCV004148756] Chr11:117450617 [GRCh38]
Chr11:117321333 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1398C>T (p.Thr466=) single nucleotide variant not provided [RCV003027282] Chr11:117518578 [GRCh38]
Chr11:117389293 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3363C>T (p.Gly1121=) single nucleotide variant not provided [RCV003089481] Chr11:117461499 [GRCh38]
Chr11:117332215 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3024+10T>C single nucleotide variant not provided [RCV002877550] Chr11:117469900 [GRCh38]
Chr11:117340616 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5965G>C (p.Gly1989Arg) single nucleotide variant not specified [RCV004152570] Chr11:117428525 [GRCh38]
Chr11:117299241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4145-11T>C single nucleotide variant not provided [RCV002631899] Chr11:117438994 [GRCh38]
Chr11:117309710 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4241G>A (p.Arg1414Gln) single nucleotide variant not provided [RCV002675527] Chr11:117438887 [GRCh38]
Chr11:117309603 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5903C>T (p.Thr1968Ile) single nucleotide variant not provided [RCV002651741] Chr11:117428587 [GRCh38]
Chr11:117299303 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4346C>T (p.Thr1449Met) single nucleotide variant not provided [RCV002577785] Chr11:117437981 [GRCh38]
Chr11:117308697 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2954-15C>T single nucleotide variant not provided [RCV002631521] Chr11:117469995 [GRCh38]
Chr11:117340711 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.847G>A (p.Asp283Asn) single nucleotide variant not provided [RCV002581017]|not specified [RCV004907785] Chr11:117524895 [GRCh38]
Chr11:117395610 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2942C>G (p.Thr981Ser) single nucleotide variant not provided [RCV002807039] Chr11:117471880 [GRCh38]
Chr11:117342595 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5180-16_5181dup duplication not provided [RCV003028705] Chr11:117431726..117431727 [GRCh38]
Chr11:117302442..117302443 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1784-14G>A single nucleotide variant not provided [RCV002630333] Chr11:117505746 [GRCh38]
Chr11:117376461 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3709-5C>G single nucleotide variant not provided [RCV002631566] Chr11:117444044 [GRCh38]
Chr11:117314760 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-48C>T single nucleotide variant not provided [RCV002671059] Chr11:117797127 [GRCh38]
Chr11:117667842 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3625G>C (p.Val1209Leu) single nucleotide variant not provided [RCV003011275] Chr11:117450632 [GRCh38]
Chr11:117321348 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1213+13G>A single nucleotide variant not provided [RCV002600270] Chr11:117521117 [GRCh38]
Chr11:117391832 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4433-11C>T single nucleotide variant not provided [RCV002746801] Chr11:117437420 [GRCh38]
Chr11:117308136 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.823C>A (p.Arg275Ser) single nucleotide variant not provided [RCV002580338] Chr11:117524919 [GRCh38]
Chr11:117395634 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1991A>G (p.Asn664Ser) single nucleotide variant not provided [RCV003044657] Chr11:117505525 [GRCh38]
Chr11:117376240 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-21A>G single nucleotide variant not provided [RCV002670814] Chr11:117797100 [GRCh38]
Chr11:117667815 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.937+7del deletion not provided [RCV002933930] Chr11:117524798 [GRCh38]
Chr11:117395513 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2806T>C (p.Ser936Pro) single nucleotide variant not provided [RCV003045856] Chr11:117472016 [GRCh38]
Chr11:117342731 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-56C>T single nucleotide variant not provided [RCV002599489] Chr11:117797135 [GRCh38]
Chr11:117667850 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5997C>T (p.Pro1999=) single nucleotide variant not provided [RCV002649387] Chr11:117428493 [GRCh38]
Chr11:117299209 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2268C>T (p.His756=) single nucleotide variant not provided [RCV002580764] Chr11:117503936 [GRCh38]
Chr11:117374651 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5212C>T (p.His1738Tyr) single nucleotide variant not provided [RCV002877332] Chr11:117431696 [GRCh38]
Chr11:117302412 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3027A>T (p.Ala1009=) single nucleotide variant not provided [RCV002938792] Chr11:117465180 [GRCh38]
Chr11:117335896 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5890G>A (p.Ala1964Thr) single nucleotide variant not provided [RCV002632215] Chr11:117428600 [GRCh38]
Chr11:117299316 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-91G>A single nucleotide variant not provided [RCV002600434] Chr11:117797170 [GRCh38]
Chr11:117667885 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5692_5693insGCCTCTGTGATTCCT (p.Asp1897_Tyr1898insCysLeuCysAspSer) insertion not provided [RCV002580038] Chr11:117428797..117428798 [GRCh38]
Chr11:117299513..117299514 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.292G>A (p.Asp98Asn) single nucleotide variant not provided [RCV003047657] Chr11:117780565 [GRCh38]
Chr11:117651280 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1460C>T (p.Ala487Val) single nucleotide variant not provided [RCV002746516] Chr11:117518516 [GRCh38]
Chr11:117389231 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6138C>T (p.Tyr2046=) single nucleotide variant not provided [RCV002814549] Chr11:117428352 [GRCh38]
Chr11:117299068 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.906G>A (p.Ser302=) single nucleotide variant not provided [RCV003092813] Chr11:117524836 [GRCh38]
Chr11:117395551 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_020693.4(DSCAML1):c.3492C>T (p.Ser1164=) single nucleotide variant not provided [RCV002605173] Chr11:117458830 [GRCh38]
Chr11:117329546 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4704C>T (p.Thr1568=) single nucleotide variant not provided [RCV002721317] Chr11:117437138 [GRCh38]
Chr11:117307854 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4714G>A (p.Asp1572Asn) single nucleotide variant not provided [RCV003067481] Chr11:117437128 [GRCh38]
Chr11:117307844 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2873A>G (p.Tyr958Cys) single nucleotide variant not provided [RCV002652986] Chr11:117471949 [GRCh38]
Chr11:117342664 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4097C>A (p.Thr1366Asn) single nucleotide variant not provided [RCV002635263] Chr11:117439313 [GRCh38]
Chr11:117310029 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2447G>A (p.Arg816Gln) single nucleotide variant not provided [RCV002582660] Chr11:117482075 [GRCh38]
Chr11:117352790 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5960C>T (p.Ala1987Val) single nucleotide variant not provided [RCV002658189] Chr11:117428530 [GRCh38]
Chr11:117299246 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5844T>A (p.Pro1948=) single nucleotide variant not provided [RCV002606333] Chr11:117428646 [GRCh38]
Chr11:117299362 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4394G>A (p.Arg1465His) single nucleotide variant not provided [RCV003066763] Chr11:117437933 [GRCh38]
Chr11:117308649 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4839C>T (p.Arg1613=) single nucleotide variant not provided [RCV002635010] Chr11:117435681 [GRCh38]
Chr11:117306397 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5179+14C>G single nucleotide variant not provided [RCV002634807] Chr11:117432338 [GRCh38]
Chr11:117303054 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2414C>T (p.Ala805Val) single nucleotide variant not provided [RCV002657802] Chr11:117482108 [GRCh38]
Chr11:117352823 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2698G>T (p.Ala900Ser) single nucleotide variant not provided [RCV002725612] Chr11:117480530 [GRCh38]
Chr11:117351245 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1353T>C (p.Asp451=) single nucleotide variant not provided [RCV002657908] Chr11:117518623 [GRCh38]
Chr11:117389338 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5872C>A (p.Pro1958Thr) single nucleotide variant not provided [RCV003066124] Chr11:117428618 [GRCh38]
Chr11:117299334 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2807C>G (p.Ser936Cys) single nucleotide variant not provided [RCV002604145] Chr11:117472015 [GRCh38]
Chr11:117342730 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5227C>T (p.Arg1743Trp) single nucleotide variant not provided [RCV002942712]|not specified [RCV004067262] Chr11:117431681 [GRCh38]
Chr11:117302397 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2785+15A>G single nucleotide variant not provided [RCV002604097] Chr11:117480428 [GRCh38]
Chr11:117351143 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.47-11C>T single nucleotide variant not provided [RCV002634436] Chr11:117780821 [GRCh38]
Chr11:117651536 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-17T>C single nucleotide variant not provided [RCV002943970]|not specified [RCV004907804] Chr11:117797096 [GRCh38]
Chr11:117667811 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.643C>T (p.Arg215Cys) single nucleotide variant not provided [RCV002635489] Chr11:117532391 [GRCh38]
Chr11:117403106 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5829C>A (p.His1943Gln) single nucleotide variant not specified [RCV004083482] Chr11:117428661 [GRCh38]
Chr11:117299377 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2393C>T (p.Thr798Ile) single nucleotide variant not provided [RCV003050845] Chr11:117482129 [GRCh38]
Chr11:117352844 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1090C>T (p.Arg364Cys) single nucleotide variant not provided [RCV002605198]|not specified [RCV004907789] Chr11:117521253 [GRCh38]
Chr11:117391968 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.129G>A (p.Val43=) single nucleotide variant not provided [RCV002584507] Chr11:117780728 [GRCh38]
Chr11:117651443 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4313G>A (p.Arg1438His) single nucleotide variant not provided [RCV002721484] Chr11:117438014 [GRCh38]
Chr11:117308730 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6062G>A (p.Gly2021Glu) single nucleotide variant not provided [RCV002609157] Chr11:117428428 [GRCh38]
Chr11:117299144 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2959G>A (p.Asp987Asn) single nucleotide variant not provided [RCV002603165] Chr11:117469975 [GRCh38]
Chr11:117340691 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2657-10C>T single nucleotide variant not provided [RCV002608326] Chr11:117480581 [GRCh38]
Chr11:117351296 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3452G>A (p.Arg1151Gln) single nucleotide variant not provided [RCV002588786] Chr11:117458870 [GRCh38]
Chr11:117329586 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1300G>A (p.Ala434Thr) single nucleotide variant not provided [RCV002588793] Chr11:117518676 [GRCh38]
Chr11:117389391 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4514A>G (p.Asn1505Ser) single nucleotide variant not provided [RCV002942997] Chr11:117437328 [GRCh38]
Chr11:117308044 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1572C>T (p.Ile524=) single nucleotide variant not provided [RCV002658445] Chr11:117516678 [GRCh38]
Chr11:117387393 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5928G>A (p.Met1976Ile) single nucleotide variant not provided [RCV002586651] Chr11:117428562 [GRCh38]
Chr11:117299278 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.512-17C>T single nucleotide variant not provided [RCV002608359] Chr11:117532539 [GRCh38]
Chr11:117403254 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-51G>T single nucleotide variant not provided [RCV002608368] Chr11:117797130 [GRCh38]
Chr11:117667845 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-11C>G single nucleotide variant not provided [RCV002604978] Chr11:117797090 [GRCh38]
Chr11:117667805 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3421G>A (p.Glu1141Lys) single nucleotide variant not provided [RCV003068495] Chr11:117458901 [GRCh38]
Chr11:117329617 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2432C>T (p.Thr811Met) single nucleotide variant not provided [RCV002585887] Chr11:117482090 [GRCh38]
Chr11:117352805 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1182C>T (p.Thr394=) single nucleotide variant not provided [RCV002607548] Chr11:117521161 [GRCh38]
Chr11:117391876 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2786-13G>A single nucleotide variant not provided [RCV002609768] Chr11:117472049 [GRCh38]
Chr11:117342764 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.819C>T (p.Thr273=) single nucleotide variant not provided [RCV002583655] Chr11:117524923 [GRCh38]
Chr11:117395638 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3444G>A (p.Thr1148=) single nucleotide variant not provided [RCV002585983] Chr11:117458878 [GRCh38]
Chr11:117329594 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1313C>T (p.Thr438Met) single nucleotide variant not provided [RCV002589404]|not specified [RCV004064625] Chr11:117518663 [GRCh38]
Chr11:117389378 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1225C>T (p.Arg409Cys) single nucleotide variant not provided [RCV002589516] Chr11:117518751 [GRCh38]
Chr11:117389466 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5944_5961del (p.Gly1982_Ala1987del) deletion not provided [RCV003069460] Chr11:117428529..117428546 [GRCh38]
Chr11:117299245..117299262 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1658T>C (p.Val553Ala) single nucleotide variant not provided [RCV002606822] Chr11:117516592 [GRCh38]
Chr11:117387307 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4834G>A (p.Val1612Ile) single nucleotide variant not provided [RCV002587016] Chr11:117435686 [GRCh38]
Chr11:117306402 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4495A>G (p.Asn1499Asp) single nucleotide variant not provided [RCV002654270] Chr11:117437347 [GRCh38]
Chr11:117308063 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5636C>T (p.Ala1879Val) single nucleotide variant not provided [RCV002586183] Chr11:117430772 [GRCh38]
Chr11:117301488 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1962G>T (p.Leu654=) single nucleotide variant not provided [RCV002608764] Chr11:117505554 [GRCh38]
Chr11:117376269 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1482T>C (p.Ala494=) single nucleotide variant not provided [RCV002589747] Chr11:117518494 [GRCh38]
Chr11:117389209 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1179G>C (p.Gln393His) single nucleotide variant not provided [RCV003067912]|not specified [RCV004071680] Chr11:117521164 [GRCh38]
Chr11:117391879 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4907+8T>C single nucleotide variant not provided [RCV002583809] Chr11:117433433 [GRCh38]
Chr11:117304149 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2882G>A (p.Arg961His) single nucleotide variant not provided [RCV002589941] Chr11:117471940 [GRCh38]
Chr11:117342655 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2909G>A (p.Arg970His) single nucleotide variant not provided [RCV002582774] Chr11:117471913 [GRCh38]
Chr11:117342628 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4338G>A (p.Lys1446=) single nucleotide variant not provided [RCV002605363] Chr11:117437989 [GRCh38]
Chr11:117308705 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5327C>T (p.Thr1776Met) single nucleotide variant not provided [RCV002587267]|not specified [RCV004064519] Chr11:117431581 [GRCh38]
Chr11:117302297 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1332C>T (p.Asp444=) single nucleotide variant DSCAML1-related disorder [RCV003918917]|not provided [RCV002610774] Chr11:117518644 [GRCh38]
Chr11:117389359 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1777G>A (p.Val593Ile) single nucleotide variant not provided [RCV002586383] Chr11:117516473 [GRCh38]
Chr11:117387188 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2043G>A (p.Glu681=) single nucleotide variant not provided [RCV003052178] Chr11:117505473 [GRCh38]
Chr11:117376188 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2518G>A (p.Ala840Thr) single nucleotide variant not provided [RCV002585563] Chr11:117482004 [GRCh38]
Chr11:117352719 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4838G>A (p.Arg1613His) single nucleotide variant not provided [RCV002585571]|not specified [RCV004068820] Chr11:117435682 [GRCh38]
Chr11:117306398 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5142A>G (p.Gly1714=) single nucleotide variant not provided [RCV003071155] Chr11:117432389 [GRCh38]
Chr11:117303105 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3818G>A (p.Arg1273Gln) single nucleotide variant not provided [RCV003072296] Chr11:117443930 [GRCh38]
Chr11:117314646 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4975A>G (p.Ile1659Val) single nucleotide variant not provided [RCV003049614] Chr11:117433189 [GRCh38]
Chr11:117303905 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2958C>T (p.Pro986=) single nucleotide variant not provided [RCV003092979] Chr11:117469976 [GRCh38]
Chr11:117340692 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4401C>T (p.Ser1467=) single nucleotide variant not provided [RCV002603178] Chr11:117437926 [GRCh38]
Chr11:117308642 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6036A>G (p.Arg2012=) single nucleotide variant not provided [RCV002607182] Chr11:117428454 [GRCh38]
Chr11:117299170 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5970C>T (p.Pro1990=) single nucleotide variant not provided [RCV002607183] Chr11:117428520 [GRCh38]
Chr11:117299236 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3403G>A (p.Val1135Ile) single nucleotide variant not provided [RCV002609035] Chr11:117461459 [GRCh38]
Chr11:117332175 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.938-8C>T single nucleotide variant not provided [RCV002613021] Chr11:117521413 [GRCh38]
Chr11:117392128 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-101C>A single nucleotide variant not provided [RCV002613079] Chr11:117797180 [GRCh38]
Chr11:117667895 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3981-15C>T single nucleotide variant not provided [RCV002613088] Chr11:117439444 [GRCh38]
Chr11:117310160 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.511+8G>A single nucleotide variant not provided [RCV002613094] Chr11:117776783 [GRCh38]
Chr11:117647498 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1483G>A (p.Glu495Lys) single nucleotide variant not provided [RCV002607483] Chr11:117518493 [GRCh38]
Chr11:117389208 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5902A>G (p.Thr1968Ala) single nucleotide variant not provided [RCV002613161] Chr11:117428588 [GRCh38]
Chr11:117299304 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.992C>T (p.Thr331Met) single nucleotide variant not provided [RCV002613236] Chr11:117521351 [GRCh38]
Chr11:117392066 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2576G>A (p.Arg859His) single nucleotide variant not provided [RCV002582659] Chr11:117481254 [GRCh38]
Chr11:117351969 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5652C>T (p.Asn1884=) single nucleotide variant not provided [RCV002609336] Chr11:117430756 [GRCh38]
Chr11:117301472 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4629G>A (p.Glu1543=) single nucleotide variant not provided [RCV002609371] Chr11:117437213 [GRCh38]
Chr11:117307929 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1551C>T (p.Val517=) single nucleotide variant not provided [RCV002611184] Chr11:117516699 [GRCh38]
Chr11:117387414 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-69C>T single nucleotide variant not provided [RCV002680769] Chr11:117797148 [GRCh38]
Chr11:117667863 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4011T>C (p.Asp1337=) single nucleotide variant not provided [RCV002588887] Chr11:117439399 [GRCh38]
Chr11:117310115 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.823C>T (p.Arg275Cys) single nucleotide variant not provided [RCV002611395] Chr11:117524919 [GRCh38]
Chr11:117395634 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4279G>A (p.Glu1427Lys) single nucleotide variant not provided [RCV002589059] Chr11:117438048 [GRCh38]
Chr11:117308764 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.50G>A (p.Arg17His) single nucleotide variant not provided [RCV002814743] Chr11:117780807 [GRCh38]
Chr11:117651522 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.39A>G (p.Leu13=) single nucleotide variant not provided [RCV002589088] Chr11:117797041 [GRCh38]
Chr11:117667756 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1941C>T (p.Ser647=) single nucleotide variant not provided [RCV002942969] Chr11:117505575 [GRCh38]
Chr11:117376290 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2544C>G (p.Val848=) single nucleotide variant not provided [RCV002654586] Chr11:117481978 [GRCh38]
Chr11:117352693 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5891C>G (p.Ala1964Gly) single nucleotide variant not provided [RCV002589235] Chr11:117428599 [GRCh38]
Chr11:117299315 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1049G>A (p.Arg350His) single nucleotide variant not provided [RCV002584141]|not specified [RCV004064567] Chr11:117521294 [GRCh38]
Chr11:117392009 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4824G>A (p.Leu1608=) single nucleotide variant not provided [RCV002589443] Chr11:117435696 [GRCh38]
Chr11:117306412 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4211T>C (p.Ile1404Thr) single nucleotide variant not provided [RCV002587485] Chr11:117438917 [GRCh38]
Chr11:117309633 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.558C>T (p.Asp186=) single nucleotide variant not provided [RCV002587561] Chr11:117532476 [GRCh38]
Chr11:117403191 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1578C>T (p.Cys526=) single nucleotide variant not provided [RCV002585838] Chr11:117516672 [GRCh38]
Chr11:117387387 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2317G>A (p.Val773Ile) single nucleotide variant not provided [RCV002589632]|not specified [RCV004064630] Chr11:117503887 [GRCh38]
Chr11:117374602 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-68G>C single nucleotide variant not provided [RCV002589671] Chr11:117797147 [GRCh38]
Chr11:117667862 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1923G>C (p.Ser641=) single nucleotide variant not provided [RCV002589768] Chr11:117505593 [GRCh38]
Chr11:117376308 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1511-34CTC[6] microsatellite not provided [RCV002586072] Chr11:117516758..117516759 [GRCh38]
Chr11:117387473..117387474 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.420C>T (p.Asn140=) single nucleotide variant not provided [RCV003073106] Chr11:117776882 [GRCh38]
Chr11:117647597 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1213+10G>C single nucleotide variant not provided [RCV002610505] Chr11:117521120 [GRCh38]
Chr11:117391835 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5825G>A (p.Arg1942His) single nucleotide variant not provided [RCV002610528]|not specified [RCV004621713] Chr11:117428665 [GRCh38]
Chr11:117299381 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2545G>A (p.Val849Ile) single nucleotide variant not provided [RCV003067471] Chr11:117481977 [GRCh38]
Chr11:117352692 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4616C>T (p.Thr1539Met) single nucleotide variant not provided [RCV002610583] Chr11:117437226 [GRCh38]
Chr11:117307942 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3832G>A (p.Glu1278Lys) single nucleotide variant not provided [RCV002612547] Chr11:117443916 [GRCh38]
Chr11:117314632 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1992C>T (p.Asn664=) single nucleotide variant not provided [RCV002612671] Chr11:117505524 [GRCh38]
Chr11:117376239 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4983G>T (p.Arg1661Ser) single nucleotide variant not specified [RCV004328433] Chr11:117433181 [GRCh38]
Chr11:117303897 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1284G>T (p.Met428Ile) single nucleotide variant not specified [RCV004285170] Chr11:117518692 [GRCh38]
Chr11:117389407 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5708T>A (p.Leu1903Gln) single nucleotide variant not specified [RCV004281253] Chr11:117428782 [GRCh38]
Chr11:117299498 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5863C>T (p.Leu1955Phe) single nucleotide variant not specified [RCV004285181] Chr11:117428627 [GRCh38]
Chr11:117299343 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4739A>G (p.Lys1580Arg) single nucleotide variant not specified [RCV004266798] Chr11:117435781 [GRCh38]
Chr11:117306497 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4249G>C (p.Val1417Leu) single nucleotide variant not provided [RCV003730430]|not specified [RCV004248656] Chr11:117438078 [GRCh38]
Chr11:117308794 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5972C>G (p.Thr1991Ser) single nucleotide variant not specified [RCV004269442] Chr11:117428518 [GRCh38]
Chr11:117299234 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2039G>A (p.Arg680Gln) single nucleotide variant not specified [RCV004273959] Chr11:117505477 [GRCh38]
Chr11:117376192 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.616G>A (p.Gly206Arg) single nucleotide variant not provided [RCV005061076]|not specified [RCV004266799] Chr11:117532418 [GRCh38]
Chr11:117403133 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5627C>T (p.Pro1876Leu) single nucleotide variant not specified [RCV004360595] Chr11:117430781 [GRCh38]
Chr11:117301497 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5012G>A (p.Gly1671Asp) single nucleotide variant not specified [RCV004360045] Chr11:117433152 [GRCh38]
Chr11:117303868 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4750G>C (p.Gly1584Arg) single nucleotide variant not specified [RCV004356257] Chr11:117435770 [GRCh38]
Chr11:117306486 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3826A>G (p.Ser1276Gly) single nucleotide variant not provided [RCV003569442] Chr11:117443922 [GRCh38]
Chr11:117314638 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5499G>A (p.Glu1833=) single nucleotide variant not provided [RCV003873485] Chr11:117430909 [GRCh38]
Chr11:117301625 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5804G>A (p.Arg1935Gln) single nucleotide variant not provided [RCV003873461] Chr11:117428686 [GRCh38]
Chr11:117299402 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5930C>T (p.Pro1977Leu) single nucleotide variant not provided [RCV003875408] Chr11:117428560 [GRCh38]
Chr11:117299276 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2658G>A (p.Glu886=) single nucleotide variant not provided [RCV003570230] Chr11:117480570 [GRCh38]
Chr11:117351285 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.844dup (p.Ser282fs) duplication not provided [RCV003570439] Chr11:117524897..117524898 [GRCh38]
Chr11:117395612..117395613 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.72C>T (p.Ser24=) single nucleotide variant not provided [RCV003825639] Chr11:117780785 [GRCh38]
Chr11:117651500 [GRCh37]
Chr11:11q23.3		 likely benign
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_020693.4(DSCAML1):c.4993C>T (p.Leu1665Phe) single nucleotide variant DSCAML1-related disorder [RCV003391253] Chr11:117433171 [GRCh38]
Chr11:117303887 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6035G>A (p.Arg2012Gln) single nucleotide variant not provided [RCV003714506] Chr11:117428455 [GRCh38]
Chr11:117299171 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1314G>A (p.Thr438=) single nucleotide variant not provided [RCV003826750] Chr11:117518662 [GRCh38]
Chr11:117389377 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3135G>A (p.Thr1045=) single nucleotide variant not provided [RCV003739832] Chr11:117465072 [GRCh38]
Chr11:117335788 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5180-16G>A single nucleotide variant not provided [RCV003573854] Chr11:117431744 [GRCh38]
Chr11:117302460 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5969C>T (p.Pro1990Leu) single nucleotide variant not provided [RCV003690672] Chr11:117428521 [GRCh38]
Chr11:117299237 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1236G>A (p.Ser412=) single nucleotide variant not provided [RCV003831241] Chr11:117518740 [GRCh38]
Chr11:117389455 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5963C>T (p.Pro1988Leu) single nucleotide variant not provided [RCV003849275] Chr11:117428527 [GRCh38]
Chr11:117299243 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1443C>T (p.Gly481=) single nucleotide variant not provided [RCV003829469] Chr11:117518533 [GRCh38]
Chr11:117389248 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1721T>G (p.Leu574Arg) single nucleotide variant not provided [RCV003696628] Chr11:117516529 [GRCh38]
Chr11:117387244 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.780C>T (p.Leu260=) single nucleotide variant not provided [RCV003829948] Chr11:117524962 [GRCh38]
Chr11:117395677 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.10:g.117797239C>T single nucleotide variant not provided [RCV003557438] Chr11:117797239 [GRCh38]
Chr11:117667954 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.425C>T (p.Ala142Val) single nucleotide variant not provided [RCV003828008] Chr11:117776877 [GRCh38]
Chr11:117647592 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3959C>T (p.Ala1320Val) single nucleotide variant not provided [RCV003830393] Chr11:117439840 [GRCh38]
Chr11:117310556 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1620G>A (p.Lys540=) single nucleotide variant not provided [RCV003545483] Chr11:117516630 [GRCh38]
Chr11:117387345 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.771C>G (p.Ile257Met) single nucleotide variant not provided [RCV003881767] Chr11:117524971 [GRCh38]
Chr11:117395686 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2856G>A (p.Leu952=) single nucleotide variant not provided [RCV003578012] Chr11:117471966 [GRCh38]
Chr11:117342681 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1783+9C>G single nucleotide variant not provided [RCV003877504] Chr11:117516458 [GRCh38]
Chr11:117387173 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5706C>G (p.Pro1902=) single nucleotide variant not provided [RCV003829881] Chr11:117428784 [GRCh38]
Chr11:117299500 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.555T>C (p.Ser185=) single nucleotide variant not provided [RCV003577118] Chr11:117532479 [GRCh38]
Chr11:117403194 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3443C>A (p.Thr1148Lys) single nucleotide variant not provided [RCV003691046] Chr11:117458879 [GRCh38]
Chr11:117329595 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1784-15C>T single nucleotide variant not provided [RCV003829548] Chr11:117505747 [GRCh38]
Chr11:117376462 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5686+12G>A single nucleotide variant not provided [RCV003877674] Chr11:117430710 [GRCh38]
Chr11:117301426 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3771C>G (p.Arg1257=) single nucleotide variant not provided [RCV003826862] Chr11:117443977 [GRCh38]
Chr11:117314693 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4402G>A (p.Glu1468Lys) single nucleotide variant not provided [RCV003829701] Chr11:117437925 [GRCh38]
Chr11:117308641 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5169G>T (p.Arg1723=) single nucleotide variant not provided [RCV003714641] Chr11:117432362 [GRCh38]
Chr11:117303078 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5951C>G (p.Ala1984Gly) single nucleotide variant not provided [RCV003714051] Chr11:117428539 [GRCh38]
Chr11:117299255 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2438G>A (p.Arg813Gln) single nucleotide variant not provided [RCV003547900]|not specified [RCV004907852] Chr11:117482084 [GRCh38]
Chr11:117352799 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.512-10G>A single nucleotide variant not provided [RCV003828402] Chr11:117532532 [GRCh38]
Chr11:117403247 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2063-9T>A single nucleotide variant not provided [RCV003694063] Chr11:117505052 [GRCh38]
Chr11:117375767 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3984A>G (p.Glu1328=) single nucleotide variant not provided [RCV003692988] Chr11:117439426 [GRCh38]
Chr11:117310142 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5222G>A (p.Arg1741Gln) single nucleotide variant not provided [RCV003692176] Chr11:117431686 [GRCh38]
Chr11:117302402 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2850G>T (p.Val950=) single nucleotide variant not provided [RCV003695463] Chr11:117471972 [GRCh38]
Chr11:117342687 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.928A>T (p.Met310Leu) single nucleotide variant not provided [RCV003881564] Chr11:117524814 [GRCh38]
Chr11:117395529 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1194T>C (p.Phe398=) single nucleotide variant DSCAML1-related disorder [RCV003929321]|not provided [RCV003739907] Chr11:117521149 [GRCh38]
Chr11:117391864 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2360-18T>A single nucleotide variant not provided [RCV003830920] Chr11:117482180 [GRCh38]
Chr11:117352895 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3665G>A (p.Arg1222His) single nucleotide variant not provided [RCV003829456] Chr11:117450592 [GRCh38]
Chr11:117321308 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-109_-108delinsTT indel not provided [RCV003688029] Chr11:117797187..117797188 [GRCh38]
Chr11:117667902..117667903 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2337G>A (p.Lys779=) single nucleotide variant not provided [RCV003578957] Chr11:117503867 [GRCh38]
Chr11:117374582 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3640C>A (p.Pro1214Thr) single nucleotide variant not provided [RCV003713586] Chr11:117450617 [GRCh38]
Chr11:117321333 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3030C>G (p.Pro1010=) single nucleotide variant not provided [RCV003879040] Chr11:117465177 [GRCh38]
Chr11:117335893 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2952C>T (p.Ala984=) single nucleotide variant not provided [RCV003826655] Chr11:117471870 [GRCh38]
Chr11:117342585 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.507C>G (p.Ile169Met) single nucleotide variant not provided [RCV003831062] Chr11:117776795 [GRCh38]
Chr11:117647510 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.968A>T (p.Lys323Met) single nucleotide variant not provided [RCV003659726] Chr11:117521375 [GRCh38]
Chr11:117392090 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3758C>G (p.Ala1253Gly) single nucleotide variant not provided [RCV003713877] Chr11:117443990 [GRCh38]
Chr11:117314706 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.355G>A (p.Val119Ile) single nucleotide variant not provided [RCV003544553] Chr11:117780502 [GRCh38]
Chr11:117651217 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4935T>C (p.Pro1645=) single nucleotide variant not provided [RCV003881510] Chr11:117433229 [GRCh38]
Chr11:117303945 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3876C>A (p.Ile1292=) single nucleotide variant not provided [RCV003544652] Chr11:117439923 [GRCh38]
Chr11:117310639 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2120G>A (p.Gly707Asp) single nucleotide variant not provided [RCV003716125] Chr11:117504986 [GRCh38]
Chr11:117375701 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1349G>A (p.Arg450Gln) single nucleotide variant not provided [RCV003828669] Chr11:117518627 [GRCh38]
Chr11:117389342 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.149C>T (p.Ala50Val) single nucleotide variant not provided [RCV003546445] Chr11:117780708 [GRCh38]
Chr11:117651423 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3772_3774del (p.Gly1258del) deletion not provided [RCV003826861] Chr11:117443974..117443976 [GRCh38]
Chr11:117314690..117314692 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5179+4C>T single nucleotide variant not provided [RCV003826747] Chr11:117432348 [GRCh38]
Chr11:117303064 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.866G>A (p.Ser289Asn) single nucleotide variant not provided [RCV003544760] Chr11:117524876 [GRCh38]
Chr11:117395591 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-44C>T single nucleotide variant not provided [RCV003826838]|not specified [RCV004907880] Chr11:117797123 [GRCh38]
Chr11:117667838 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3598G>A (p.Val1200Ile) single nucleotide variant not provided [RCV003879977]|not specified [RCV004369653] Chr11:117450659 [GRCh38]
Chr11:117321375 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2385C>G (p.Pro795=) single nucleotide variant not provided [RCV003827815] Chr11:117482137 [GRCh38]
Chr11:117352852 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3103G>A (p.Gly1035Arg) single nucleotide variant not provided [RCV003663537] Chr11:117465104 [GRCh38]
Chr11:117335820 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3709-17T>G single nucleotide variant not provided [RCV003574182] Chr11:117444056 [GRCh38]
Chr11:117314772 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5016C>A (p.Ile1672=) single nucleotide variant not provided [RCV003834791] Chr11:117433148 [GRCh38]
Chr11:117303864 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.745G>T (p.Ala249Ser) single nucleotide variant not provided [RCV003665241] Chr11:117524997 [GRCh38]
Chr11:117395712 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4145-15G>A single nucleotide variant not provided [RCV003549906] Chr11:117438998 [GRCh38]
Chr11:117309714 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5934C>G (p.Ala1978=) single nucleotide variant not provided [RCV003716857] Chr11:117428556 [GRCh38]
Chr11:117299272 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3316G>A (p.Val1106Met) single nucleotide variant not provided [RCV003831997] Chr11:117461546 [GRCh38]
Chr11:117332262 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1010C>T (p.Ala337Val) single nucleotide variant not provided [RCV003851569] Chr11:117521333 [GRCh38]
Chr11:117392048 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2847T>C (p.Ile949=) single nucleotide variant not provided [RCV005062845] Chr11:117471975 [GRCh38]
Chr11:117342690 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5602C>T (p.Arg1868Cys) single nucleotide variant not provided [RCV003698105] Chr11:117430806 [GRCh38]
Chr11:117301522 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2062+10dup duplication not provided [RCV003699327] Chr11:117505443..117505444 [GRCh38]
Chr11:117376158..117376159 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.963A>G (p.Pro321=) single nucleotide variant not provided [RCV005062676] Chr11:117521380 [GRCh38]
Chr11:117392095 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4553G>A (p.Arg1518Gln) single nucleotide variant not provided [RCV005084850] Chr11:117437289 [GRCh38]
Chr11:117308005 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5696G>A (p.Cys1899Tyr) single nucleotide variant not provided [RCV003549975] Chr11:117428794 [GRCh38]
Chr11:117299510 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.235A>G (p.Asn79Asp) single nucleotide variant not provided [RCV003659004] Chr11:117780622 [GRCh38]
Chr11:117651337 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5988C>T (p.Pro1996=) single nucleotide variant not provided [RCV003663916] Chr11:117428502 [GRCh38]
Chr11:117299218 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2359+20G>A single nucleotide variant not provided [RCV003833988] Chr11:117503825 [GRCh38]
Chr11:117374540 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2785+7G>A single nucleotide variant not provided [RCV003834016] Chr11:117480436 [GRCh38]
Chr11:117351151 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.46+14G>A single nucleotide variant not provided [RCV003673930] Chr11:117797020 [GRCh38]
Chr11:117667735 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3339G>T (p.Glu1113Asp) single nucleotide variant not provided [RCV003703251] Chr11:117461523 [GRCh38]
Chr11:117332239 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3877A>G (p.Ile1293Val) single nucleotide variant not provided [RCV003669863] Chr11:117439922 [GRCh38]
Chr11:117310638 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1632G>A (p.Leu544=) single nucleotide variant not provided [RCV003838755] Chr11:117516618 [GRCh38]
Chr11:117387333 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.396G>A (p.Glu132=) single nucleotide variant not provided [RCV003832762] Chr11:117776906 [GRCh38]
Chr11:117647621 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-22G>C single nucleotide variant not provided [RCV003833742] Chr11:117797101 [GRCh38]
Chr11:117667816 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.327C>T (p.Ala109=) single nucleotide variant not provided [RCV003855407] Chr11:117780530 [GRCh38]
Chr11:117651245 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4785C>T (p.Ile1595=) single nucleotide variant DSCAML1-related disorder [RCV003929304]|not provided [RCV003724791] Chr11:117435735 [GRCh38]
Chr11:117306451 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2424A>G (p.Leu808=) single nucleotide variant not provided [RCV003725594] Chr11:117482098 [GRCh38]
Chr11:117352813 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.429C>T (p.Val143=) single nucleotide variant not provided [RCV003703501] Chr11:117776873 [GRCh38]
Chr11:117647588 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1230C>T (p.Ile410=) single nucleotide variant not provided [RCV003672416] Chr11:117518746 [GRCh38]
Chr11:117389461 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5735G>A (p.Arg1912Gln) single nucleotide variant not provided [RCV003835996] Chr11:117428755 [GRCh38]
Chr11:117299471 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1783+7C>G single nucleotide variant not provided [RCV003659301] Chr11:117516460 [GRCh38]
Chr11:117387175 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1689C>T (p.Asp563=) single nucleotide variant not provided [RCV003817448] Chr11:117516561 [GRCh38]
Chr11:117387276 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5816C>T (p.Thr1939Ile) single nucleotide variant not provided [RCV003702222] Chr11:117428674 [GRCh38]
Chr11:117299390 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2500G>A (p.Val834Ile) single nucleotide variant not provided [RCV003725838] Chr11:117482022 [GRCh38]
Chr11:117352737 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5973C>A (p.Thr1991=) single nucleotide variant not provided [RCV003672973] Chr11:117428517 [GRCh38]
Chr11:117299233 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5375-12T>C single nucleotide variant not provided [RCV003669555] Chr11:117431045 [GRCh38]
Chr11:117301761 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1104C>T (p.Asn368=) single nucleotide variant not provided [RCV003717688] Chr11:117521239 [GRCh38]
Chr11:117391954 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5260C>G (p.Gln1754Glu) single nucleotide variant not provided [RCV003671082] Chr11:117431648 [GRCh38]
Chr11:117302364 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.717C>T (p.Ala239=) single nucleotide variant not provided [RCV003669764] Chr11:117525025 [GRCh38]
Chr11:117395740 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4559A>G (p.Lys1520Arg) single nucleotide variant not provided [RCV003560697] Chr11:117437283 [GRCh38]
Chr11:117307999 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3178G>A (p.Ala1060Thr) single nucleotide variant not provided [RCV003672737] Chr11:117465029 [GRCh38]
Chr11:117335745 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6103G>T (p.Val2035Leu) single nucleotide variant not provided [RCV003855425] Chr11:117428387 [GRCh38]
Chr11:117299103 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5824C>G (p.Arg1942Gly) single nucleotide variant not provided [RCV003838703] Chr11:117428666 [GRCh38]
Chr11:117299382 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.130G>C (p.Val44Leu) single nucleotide variant not provided [RCV003580640] Chr11:117780727 [GRCh38]
Chr11:117651442 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5644G>A (p.Gly1882Ser) single nucleotide variant not provided [RCV003726432] Chr11:117430764 [GRCh38]
Chr11:117301480 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4470C>T (p.His1490=) single nucleotide variant not provided [RCV003674205] Chr11:117437372 [GRCh38]
Chr11:117308088 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5490G>A (p.Glu1830=) single nucleotide variant not provided [RCV003560658] Chr11:117430918 [GRCh38]
Chr11:117301634 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2187C>T (p.Ser729=) single nucleotide variant not provided [RCV003717809] Chr11:117504017 [GRCh38]
Chr11:117374732 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2412T>C (p.His804=) single nucleotide variant not provided [RCV003831932] Chr11:117482110 [GRCh38]
Chr11:117352825 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6140C>G (p.Ser2047Cys) single nucleotide variant not provided [RCV003658941] Chr11:117428350 [GRCh38]
Chr11:117299066 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2027C>T (p.Ala676Val) single nucleotide variant not provided [RCV003550119] Chr11:117505489 [GRCh38]
Chr11:117376204 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1444G>A (p.Val482Met) single nucleotide variant not provided [RCV003665521] Chr11:117518532 [GRCh38]
Chr11:117389247 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5282C>A (p.Thr1761Asn) single nucleotide variant not provided [RCV003671990] Chr11:117431626 [GRCh38]
Chr11:117302342 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2683A>G (p.Ile895Val) single nucleotide variant not provided [RCV003698457] Chr11:117480545 [GRCh38]
Chr11:117351260 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4244-4_4244-3delinsAA indel not provided [RCV003668239] Chr11:117438086..117438087 [GRCh38]
Chr11:117308802..117308803 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.265C>G (p.Pro89Ala) single nucleotide variant not provided [RCV003814642] Chr11:117780592 [GRCh38]
Chr11:117651307 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-64G>A single nucleotide variant not provided [RCV003701281] Chr11:117797143 [GRCh38]
Chr11:117667858 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5448G>A (p.Glu1816=) single nucleotide variant not provided [RCV003725593] Chr11:117430960 [GRCh38]
Chr11:117301676 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4380C>T (p.Ser1460=) single nucleotide variant not provided [RCV003671085] Chr11:117437947 [GRCh38]
Chr11:117308663 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2569G>T (p.Ala857Ser) single nucleotide variant not provided [RCV003725148] Chr11:117481261 [GRCh38]
Chr11:117351976 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3451C>G (p.Arg1151Gly) single nucleotide variant not provided [RCV003559370] Chr11:117458871 [GRCh38]
Chr11:117329587 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4657G>T (p.Ala1553Ser) single nucleotide variant not provided [RCV003659084] Chr11:117437185 [GRCh38]
Chr11:117307901 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4432+20G>A single nucleotide variant not provided [RCV003836369] Chr11:117437875 [GRCh38]
Chr11:117308591 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.714G>T (p.Trp238Cys) single nucleotide variant not provided [RCV003708114] Chr11:117525028 [GRCh38]
Chr11:117395743 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.577C>G (p.Leu193Val) single nucleotide variant not provided [RCV003822828] Chr11:117532457 [GRCh38]
Chr11:117403172 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.662C>T (p.Pro221Leu) single nucleotide variant not provided [RCV003550305] Chr11:117525080 [GRCh38]
Chr11:117395795 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5881C>T (p.Pro1961Ser) single nucleotide variant not provided [RCV003730625] Chr11:117428609 [GRCh38]
Chr11:117299325 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3123G>A (p.Glu1041=) single nucleotide variant not provided [RCV003563123] Chr11:117465084 [GRCh38]
Chr11:117335800 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2760C>T (p.Phe920=) single nucleotide variant not provided [RCV003732478] Chr11:117480468 [GRCh38]
Chr11:117351183 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3813C>T (p.Ala1271=) single nucleotide variant not provided [RCV003553173] Chr11:117443935 [GRCh38]
Chr11:117314651 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2996C>T (p.Thr999Ile) single nucleotide variant not provided [RCV003568847] Chr11:117469938 [GRCh38]
Chr11:117340654 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1214-7C>A single nucleotide variant not provided [RCV003563252] Chr11:117518769 [GRCh38]
Chr11:117389484 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3712C>T (p.Pro1238Ser) single nucleotide variant not provided [RCV003563974] Chr11:117444036 [GRCh38]
Chr11:117314752 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.658+11G>A single nucleotide variant not provided [RCV003824203] Chr11:117532365 [GRCh38]
Chr11:117403080 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.795C>T (p.Pro265=) single nucleotide variant not provided [RCV003568013] Chr11:117524947 [GRCh38]
Chr11:117395662 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3613A>G (p.Ser1205Gly) single nucleotide variant not provided [RCV003679590] Chr11:117450644 [GRCh38]
Chr11:117321360 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4086G>A (p.Thr1362=) single nucleotide variant not provided [RCV003843731] Chr11:117439324 [GRCh38]
Chr11:117310040 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3138G>A (p.Gly1046=) single nucleotide variant not provided [RCV003731860] Chr11:117465069 [GRCh38]
Chr11:117335785 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5026+19A>G single nucleotide variant not provided [RCV003709354] Chr11:117433119 [GRCh38]
Chr11:117303835 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2452A>G (p.Ile818Val) single nucleotide variant not provided [RCV003862891] Chr11:117482070 [GRCh38]
Chr11:117352785 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4262C>T (p.Ser1421Leu) single nucleotide variant not provided [RCV003732715] Chr11:117438065 [GRCh38]
Chr11:117308781 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5953C>T (p.Pro1985Ser) single nucleotide variant not provided [RCV003860782] Chr11:117428537 [GRCh38]
Chr11:117299253 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3397C>T (p.Leu1133Phe) single nucleotide variant not provided [RCV003709473] Chr11:117461465 [GRCh38]
Chr11:117332181 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.268T>G (p.Ser90Ala) single nucleotide variant not provided [RCV003683246] Chr11:117780589 [GRCh38]
Chr11:117651304 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3226C>A (p.Pro1076Thr) single nucleotide variant not provided [RCV003841554] Chr11:117464981 [GRCh38]
Chr11:117335697 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4002G>A (p.Val1334=) single nucleotide variant not provided [RCV003678230] Chr11:117439408 [GRCh38]
Chr11:117310124 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5403T>C (p.Thr1801=) single nucleotide variant not provided [RCV003852983] Chr11:117431005 [GRCh38]
Chr11:117301721 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.46+13C>T single nucleotide variant not provided [RCV003859520] Chr11:117797021 [GRCh38]
Chr11:117667736 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.194A>G (p.Asp65Gly) single nucleotide variant not provided [RCV003844634]|not specified [RCV004621926] Chr11:117780663 [GRCh38]
Chr11:117651378 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3756C>T (p.Ile1252=) single nucleotide variant not provided [RCV003710032] Chr11:117443992 [GRCh38]
Chr11:117314708 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-59G>A single nucleotide variant not provided [RCV003566303] Chr11:117797138 [GRCh38]
Chr11:117667853 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5876G>A (p.Gly1959Glu) single nucleotide variant not provided [RCV003554059] Chr11:117428614 [GRCh38]
Chr11:117299330 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2224G>A (p.Gly742Ser) single nucleotide variant not provided [RCV003844790] Chr11:117503980 [GRCh38]
Chr11:117374695 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.512-14del deletion not provided [RCV003685206] Chr11:117532536 [GRCh38]
Chr11:117403251 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1373A>G (p.Gln458Arg) single nucleotide variant not provided [RCV003553451] Chr11:117518603 [GRCh38]
Chr11:117389318 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4639T>C (p.Tyr1547His) single nucleotide variant not provided [RCV003720999] Chr11:117437203 [GRCh38]
Chr11:117307919 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5375-1_5377del deletion not provided [RCV003563362] Chr11:117431031..117431034 [GRCh38]
Chr11:117301747..117301750 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2007C>T (p.Cys669=) single nucleotide variant not provided [RCV003841865] Chr11:117505509 [GRCh38]
Chr11:117376224 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1432C>T (p.Arg478Cys) single nucleotide variant not provided [RCV003733113] Chr11:117518544 [GRCh38]
Chr11:117389259 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1566C>G (p.Thr522=) single nucleotide variant not provided [RCV003568241] Chr11:117516684 [GRCh38]
Chr11:117387399 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1152C>T (p.Tyr384=) single nucleotide variant DSCAML1-related disorder [RCV003939652] Chr11:117521191 [GRCh38]
Chr11:117391906 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.364+9C>G single nucleotide variant not provided [RCV003870971] Chr11:117780484 [GRCh38]
Chr11:117651199 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.659-19G>T single nucleotide variant not provided [RCV003674664] Chr11:117525102 [GRCh38]
Chr11:117395817 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5328G>A (p.Thr1776=) single nucleotide variant not provided [RCV003554041] Chr11:117431580 [GRCh38]
Chr11:117302296 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.511+14C>T single nucleotide variant not provided [RCV003853440] Chr11:117776777 [GRCh38]
Chr11:117647492 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1740G>A (p.Gln580=) single nucleotide variant not provided [RCV003819764] Chr11:117516510 [GRCh38]
Chr11:117387225 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6050A>G (p.His2017Arg) single nucleotide variant not provided [RCV003681190] Chr11:117428440 [GRCh38]
Chr11:117299156 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5716A>G (p.Lys1906Glu) single nucleotide variant not provided [RCV003847758] Chr11:117428774 [GRCh38]
Chr11:117299490 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4983G>A (p.Arg1661=) single nucleotide variant not provided [RCV003868059] Chr11:117433181 [GRCh38]
Chr11:117303897 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-87G>A single nucleotide variant not provided [RCV003869726] Chr11:117797166 [GRCh38]
Chr11:117667881 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3729G>A (p.Thr1243=) single nucleotide variant not provided [RCV003845869] Chr11:117444019 [GRCh38]
Chr11:117314735 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3582T>A (p.Pro1194=) single nucleotide variant not provided [RCV003683305] Chr11:117450675 [GRCh38]
Chr11:117321391 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1836G>A (p.Leu612=) single nucleotide variant not provided [RCV003554808] Chr11:117505680 [GRCh38]
Chr11:117376395 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5412C>T (p.Ala1804=) single nucleotide variant not provided [RCV003683429] Chr11:117430996 [GRCh38]
Chr11:117301712 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-133G>C single nucleotide variant not provided [RCV003719724] Chr11:117797212 [GRCh38]
Chr11:117667927 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3164A>C (p.Asn1055Thr) single nucleotide variant not provided [RCV003841283] Chr11:117465043 [GRCh38]
Chr11:117335759 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4947A>G (p.Pro1649=) single nucleotide variant not provided [RCV003729031] Chr11:117433217 [GRCh38]
Chr11:117303933 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.99G>A (p.Gln33=) single nucleotide variant not provided [RCV003676592] Chr11:117780758 [GRCh38]
Chr11:117651473 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4833C>T (p.Ile1611=) single nucleotide variant not provided [RCV003823896] Chr11:117435687 [GRCh38]
Chr11:117306403 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2785+12_2785+13delinsTA indel not provided [RCV003711261] Chr11:117480430..117480431 [GRCh38]
Chr11:117351145..117351146 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-30C>T single nucleotide variant not provided [RCV003734727] Chr11:117797109 [GRCh38]
Chr11:117667824 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4686A>G (p.Glu1562=) single nucleotide variant not provided [RCV003823741] Chr11:117437156 [GRCh38]
Chr11:117307872 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.896C>T (p.Thr299Ile) single nucleotide variant not provided [RCV003553039] Chr11:117524846 [GRCh38]
Chr11:117395561 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2826C>T (p.Pro942=) single nucleotide variant not provided [RCV003679927] Chr11:117471996 [GRCh38]
Chr11:117342711 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3411G>A (p.Gly1137=) single nucleotide variant not provided [RCV003859203] Chr11:117461451 [GRCh38]
Chr11:117332167 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-98C>T single nucleotide variant not provided [RCV003707323] Chr11:117797177 [GRCh38]
Chr11:117667892 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.900C>T (p.Phe300=) single nucleotide variant not provided [RCV003864969] Chr11:117524842 [GRCh38]
Chr11:117395557 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4978C>T (p.Pro1660Ser) single nucleotide variant not provided [RCV003557238] Chr11:117433186 [GRCh38]
Chr11:117303902 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3980+10G>T single nucleotide variant not provided [RCV003870913] Chr11:117439809 [GRCh38]
Chr11:117310525 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2481A>G (p.Thr827=) single nucleotide variant not provided [RCV003720063] Chr11:117482041 [GRCh38]
Chr11:117352756 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1558C>A (p.Arg520=) single nucleotide variant not provided [RCV003682135] Chr11:117516692 [GRCh38]
Chr11:117387407 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6139T>C (p.Ser2047Pro) single nucleotide variant not provided [RCV003555443] Chr11:117428351 [GRCh38]
Chr11:117299067 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1784-9C>G single nucleotide variant not provided [RCV003856930] Chr11:117505741 [GRCh38]
Chr11:117376456 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.-137A>C single nucleotide variant not provided [RCV003732976] Chr11:117797216 [GRCh38]
Chr11:117667931 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.49C>T (p.Arg17Cys) single nucleotide variant not provided [RCV003553553] Chr11:117780808 [GRCh38]
Chr11:117651523 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2953+14C>G single nucleotide variant not provided [RCV003719191] Chr11:117471855 [GRCh38]
Chr11:117342570 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5803C>T (p.Arg1935Ter) single nucleotide variant not provided [RCV003562412] Chr11:117428687 [GRCh38]
Chr11:117299403 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5505C>T (p.Phe1835=) single nucleotide variant not provided [RCV003845191] Chr11:117430903 [GRCh38]
Chr11:117301619 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5750G>C (p.Arg1917Pro) single nucleotide variant not provided [RCV003677619] Chr11:117428740 [GRCh38]
Chr11:117299456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.46+8C>T single nucleotide variant not provided [RCV003866440] Chr11:117797026 [GRCh38]
Chr11:117667741 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.511+9C>T single nucleotide variant not provided [RCV003721972] Chr11:117776782 [GRCh38]
Chr11:117647497 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1330G>A (p.Asp444Asn) single nucleotide variant not provided [RCV003708242] Chr11:117518646 [GRCh38]
Chr11:117389361 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.543G>A (p.Gly181=) single nucleotide variant not provided [RCV003847462] Chr11:117532491 [GRCh38]
Chr11:117403206 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.41A>T (p.His14Leu) single nucleotide variant not provided [RCV003542130] Chr11:117797039 [GRCh38]
Chr11:117667754 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2739G>A (p.Gly913=) single nucleotide variant not provided [RCV003704545] Chr11:117480489 [GRCh38]
Chr11:117351204 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1496G>A (p.Arg499Gln) single nucleotide variant not provided [RCV003682574] Chr11:117518480 [GRCh38]
Chr11:117389195 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4235C>T (p.Ser1412Phe) single nucleotide variant not provided [RCV003847588] Chr11:117438893 [GRCh38]
Chr11:117309609 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-133G>A single nucleotide variant not provided [RCV003860777] Chr11:117797212 [GRCh38]
Chr11:117667927 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5924C>T (p.Ala1975Val) single nucleotide variant not provided [RCV003865812] Chr11:117428566 [GRCh38]
Chr11:117299282 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1461G>A (p.Ala487=) single nucleotide variant not provided [RCV003552835] Chr11:117518515 [GRCh38]
Chr11:117389230 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3707C>A (p.Pro1236Gln) single nucleotide variant not provided [RCV003564746] Chr11:117450550 [GRCh38]
Chr11:117321266 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1722G>A (p.Leu574=) single nucleotide variant not provided [RCV003707290] Chr11:117516528 [GRCh38]
Chr11:117387243 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1923G>A (p.Ser641=) single nucleotide variant not provided [RCV003553019] Chr11:117505593 [GRCh38]
Chr11:117376308 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5045T>C (p.Ile1682Thr) single nucleotide variant not provided [RCV003567599] Chr11:117432486 [GRCh38]
Chr11:117303202 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.904T>C (p.Ser302Pro) single nucleotide variant not provided [RCV003703928] Chr11:117524838 [GRCh38]
Chr11:117395553 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3108G>A (p.Gln1036=) single nucleotide variant not provided [RCV003732610] Chr11:117465099 [GRCh38]
Chr11:117335815 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4721-12G>T single nucleotide variant not provided [RCV003844702] Chr11:117435811 [GRCh38]
Chr11:117306527 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4907+12C>T single nucleotide variant not provided [RCV003843458] Chr11:117433429 [GRCh38]
Chr11:117304145 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3902C>T (p.Thr1301Ile) single nucleotide variant not provided [RCV003550457] Chr11:117439897 [GRCh38]
Chr11:117310613 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3028C>T (p.Pro1010Ser) single nucleotide variant not provided [RCV003565107] Chr11:117465179 [GRCh38]
Chr11:117335895 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2672dup (p.Glu892fs) duplication not provided [RCV003822389] Chr11:117480555..117480556 [GRCh38]
Chr11:117351270..117351271 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5625G>A (p.Lys1875=) single nucleotide variant not provided [RCV003733085] Chr11:117430783 [GRCh38]
Chr11:117301499 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.505A>C (p.Ile169Leu) single nucleotide variant not provided [RCV003728886] Chr11:117776797 [GRCh38]
Chr11:117647512 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.450T>G (p.Ser150=) single nucleotide variant not provided [RCV003729856] Chr11:117776852 [GRCh38]
Chr11:117647567 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2684T>G (p.Ile895Ser) single nucleotide variant not provided [RCV003729961] Chr11:117480544 [GRCh38]
Chr11:117351259 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5824C>T (p.Arg1942Cys) single nucleotide variant not provided [RCV003731249] Chr11:117428666 [GRCh38]
Chr11:117299382 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1348C>G (p.Arg450Gly) single nucleotide variant not provided [RCV003675079] Chr11:117518628 [GRCh38]
Chr11:117389343 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5299C>T (p.Arg1767Cys) single nucleotide variant not provided [RCV003729043] Chr11:117431609 [GRCh38]
Chr11:117302325 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1063G>C (p.Val355Leu) single nucleotide variant not provided [RCV003680763] Chr11:117521280 [GRCh38]
Chr11:117391995 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3934A>G (p.Asn1312Asp) single nucleotide variant not provided [RCV003568653] Chr11:117439865 [GRCh38]
Chr11:117310581 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.590G>A (p.Arg197His) single nucleotide variant not provided [RCV003554170]|not specified [RCV004907857] Chr11:117532444 [GRCh38]
Chr11:117403159 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_020693.4(DSCAML1):c.3551T>A (p.Ile1184Asn) single nucleotide variant not provided [RCV003993474] Chr11:117458771 [GRCh38]
Chr11:117329487 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.117797262G>A single nucleotide variant DSCAML1-related disorder [RCV003924105] Chr11:117797262 [GRCh38]
Chr11:117667977 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.*5C>G single nucleotide variant DSCAML1-related disorder [RCV003982348] Chr11:117428323 [GRCh38]
Chr11:117299039 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.*5del deletion DSCAML1-related disorder [RCV003914144] Chr11:117428323 [GRCh38]
Chr11:117299039 [GRCh37]
Chr11:11q23.3		 benign
NM_020693.4(DSCAML1):c.3462G>A (p.Leu1154=) single nucleotide variant DSCAML1-related disorder [RCV003923982] Chr11:117458860 [GRCh38]
Chr11:117329576 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4526C>A (p.Pro1509His) single nucleotide variant not specified [RCV004377218] Chr11:117437316 [GRCh38]
Chr11:117308032 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1421G>T (p.Gly474Val) single nucleotide variant not specified [RCV004377212] Chr11:117518555 [GRCh38]
Chr11:117389270 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2569G>A (p.Ala857Thr) single nucleotide variant not specified [RCV004377215] Chr11:117481261 [GRCh38]
Chr11:117351976 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5941G>A (p.Ala1981Thr) single nucleotide variant not specified [RCV004377222] Chr11:117428549 [GRCh38]
Chr11:117299265 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1048C>T (p.Arg350Cys) single nucleotide variant not provided [RCV005104393]|not specified [RCV004377210] Chr11:117521295 [GRCh38]
Chr11:117392010 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1963C>A (p.Gln655Lys) single nucleotide variant not specified [RCV004377213] Chr11:117505553 [GRCh38]
Chr11:117376268 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.3(DSCAML1):c.25A>T (p.Arg9Trp) single nucleotide variant not provided [RCV005065003]|not specified [RCV004377214] Chr11:117797235 [GRCh38]
Chr11:117667950 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.242C>T (p.Thr81Met) single nucleotide variant not specified [RCV004377217] Chr11:117780615 [GRCh38]
Chr11:117651330 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.3(DSCAML1):c.11C>A (p.Ala4Asp) single nucleotide variant not specified [RCV004377209] Chr11:117797249 [GRCh38]
Chr11:117667964 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5438G>A (p.Arg1813Gln) single nucleotide variant not provided [RCV005065004]|not specified [RCV004377220] Chr11:117430970 [GRCh38]
Chr11:117301686 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6037G>A (p.Ala2013Thr) single nucleotide variant not specified [RCV004377223] Chr11:117428453 [GRCh38]
Chr11:117299169 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6145T>C (p.Ser2049Pro) single nucleotide variant not specified [RCV004377224] Chr11:117428345 [GRCh38]
Chr11:117299061 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1782A>T (p.Lys594Asn) single nucleotide variant not specified [RCV004619913] Chr11:117516468 [GRCh38]
Chr11:117387183 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1074C>G (p.Asp358Glu) single nucleotide variant not specified [RCV004619919] Chr11:117521269 [GRCh38]
Chr11:117391984 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.353G>A (p.Arg118His) single nucleotide variant not specified [RCV004619916] Chr11:117780504 [GRCh38]
Chr11:117651219 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3512C>A (p.Thr1171Asn) single nucleotide variant not specified [RCV004619917] Chr11:117458810 [GRCh38]
Chr11:117329526 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5996C>T (p.Pro1999Leu) single nucleotide variant not specified [RCV004619915] Chr11:117428494 [GRCh38]
Chr11:117299210 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.259T>G (p.Phe87Val) single nucleotide variant not specified [RCV004619920] Chr11:117780598 [GRCh38]
Chr11:117651313 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4699G>A (p.Ala1567Thr) single nucleotide variant not specified [RCV004619918] Chr11:117437143 [GRCh38]
Chr11:117307859 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.233C>T (p.Ala78Val) single nucleotide variant not provided [RCV005061708]|not specified [RCV004914429] Chr11:117780624 [GRCh38]
Chr11:117651339 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3910A>T (p.Met1304Leu) single nucleotide variant not specified [RCV004914431] Chr11:117439889 [GRCh38]
Chr11:117310605 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2461C>T (p.Arg821Cys) single nucleotide variant not specified [RCV004914433] Chr11:117482061 [GRCh38]
Chr11:117352776 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6124G>A (p.Gly2042Arg) single nucleotide variant not provided [RCV005061709]|not specified [RCV004914432] Chr11:117428366 [GRCh38]
Chr11:117299082 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5258G>A (p.Cys1753Tyr) single nucleotide variant not specified [RCV004914434] Chr11:117431650 [GRCh38]
Chr11:117302366 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5932G>C (p.Ala1978Pro) single nucleotide variant not specified [RCV004914436] Chr11:117428558 [GRCh38]
Chr11:117299274 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1715A>C (p.Glu572Ala) single nucleotide variant not specified [RCV004914439] Chr11:117516535 [GRCh38]
Chr11:117387250 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5565G>C (p.Met1855Ile) single nucleotide variant not specified [RCV004914437] Chr11:117430843 [GRCh38]
Chr11:117301559 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4439C>T (p.Ser1480Phe) single nucleotide variant not specified [RCV004914438] Chr11:117437403 [GRCh38]
Chr11:117308119 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5300G>A (p.Arg1767His) single nucleotide variant not provided [RCV005066091] Chr11:117431608 [GRCh38]
Chr11:117302324 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.468T>C (p.Val156=) single nucleotide variant not provided [RCV005106213] Chr11:117776834 [GRCh38]
Chr11:117647549 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2360-5C>T single nucleotide variant not provided [RCV005087976] Chr11:117482167 [GRCh38]
Chr11:117352882 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4266G>A (p.Val1422=) single nucleotide variant not provided [RCV005146533] Chr11:117438061 [GRCh38]
Chr11:117308777 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2640C>T (p.Ile880=) single nucleotide variant not provided [RCV005067724] Chr11:117481190 [GRCh38]
Chr11:117351905 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5945G>A (p.Gly1982Asp) single nucleotide variant not provided [RCV005068024] Chr11:117428545 [GRCh38]
Chr11:117299261 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2498G>A (p.Arg833His) single nucleotide variant not provided [RCV005067210] Chr11:117482024 [GRCh38]
Chr11:117352739 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2360-20T>C single nucleotide variant not provided [RCV005196310] Chr11:117482182 [GRCh38]
Chr11:117352897 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1551C>A (p.Val517=) single nucleotide variant not provided [RCV005066622] Chr11:117516699 [GRCh38]
Chr11:117387414 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4656G>A (p.Arg1552=) single nucleotide variant not provided [RCV005067767] Chr11:117437186 [GRCh38]
Chr11:117307902 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2279A>T (p.Glu760Val) single nucleotide variant not provided [RCV005066705] Chr11:117503925 [GRCh38]
Chr11:117374640 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1075G>A (p.Glu359Lys) single nucleotide variant not provided [RCV005067317] Chr11:117521268 [GRCh38]
Chr11:117391983 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.117797240G>A single nucleotide variant not provided [RCV005160752] Chr11:117797240 [GRCh38]
Chr11:117667955 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2931C>T (p.Leu977=) single nucleotide variant not provided [RCV005146743] Chr11:117471891 [GRCh38]
Chr11:117342606 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5180-10_5180-9del deletion not provided [RCV005175089] Chr11:117431737..117431738 [GRCh38]
Chr11:117302453..117302454 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3708+3A>G single nucleotide variant not provided [RCV005067615] Chr11:117450546 [GRCh38]
Chr11:117321262 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1071T>C (p.Pro357=) single nucleotide variant not provided [RCV005144905] Chr11:117521272 [GRCh38]
Chr11:117391987 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4805C>G (p.Ala1602Gly) single nucleotide variant not provided [RCV005147155] Chr11:117435715 [GRCh38]
Chr11:117306431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5934C>T (p.Ala1978=) single nucleotide variant not provided [RCV005063935] Chr11:117428556 [GRCh38]
Chr11:117299272 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3995T>C (p.Ile1332Thr) single nucleotide variant not provided [RCV005170382] Chr11:117439415 [GRCh38]
Chr11:117310131 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1555G>A (p.Gly519Arg) single nucleotide variant not provided [RCV005086679] Chr11:117516695 [GRCh38]
Chr11:117387410 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.347A>G (p.Asn116Ser) single nucleotide variant not provided [RCV005170339] Chr11:117780510 [GRCh38]
Chr11:117651225 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3120G>A (p.Val1040=) single nucleotide variant not provided [RCV005084996] Chr11:117465087 [GRCh38]
Chr11:117335803 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3980+10G>A single nucleotide variant not provided [RCV005066113] Chr11:117439809 [GRCh38]
Chr11:117310525 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1116C>T (p.Leu372=) single nucleotide variant not provided [RCV005064041] Chr11:117521227 [GRCh38]
Chr11:117391942 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3412+9G>T single nucleotide variant not provided [RCV005146174] Chr11:117461441 [GRCh38]
Chr11:117332157 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5425G>A (p.Glu1809Lys) single nucleotide variant not provided [RCV005086059] Chr11:117430983 [GRCh38]
Chr11:117301699 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2506C>T (p.Arg836Trp) single nucleotide variant not specified [RCV004920362] Chr11:117482016 [GRCh38]
Chr11:117352731 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1388A>G (p.Asp463Gly) single nucleotide variant not specified [RCV004920363] Chr11:117518588 [GRCh38]
Chr11:117389303 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.413G>T (p.Arg138Leu) single nucleotide variant not specified [RCV004920364] Chr11:117776889 [GRCh38]
Chr11:117647604 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2072G>A (p.Arg691Gln) single nucleotide variant not provided [RCV005087037] Chr11:117505034 [GRCh38]
Chr11:117375749 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2387A>G (p.Asn796Ser) single nucleotide variant not provided [RCV005195888] Chr11:117482135 [GRCh38]
Chr11:117352850 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.672G>A (p.Ser224=) single nucleotide variant not provided [RCV005172307] Chr11:117525070 [GRCh38]
Chr11:117395785 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.10:g.117797254T>C single nucleotide variant not provided [RCV005072144] Chr11:117797254 [GRCh38]
Chr11:117667969 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4124T>C (p.Ile1375Thr) single nucleotide variant not provided [RCV005173745] Chr11:117439286 [GRCh38]
Chr11:117310002 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5849G>C (p.Ser1950Thr) single nucleotide variant not provided [RCV005146340] Chr11:117428641 [GRCh38]
Chr11:117299357 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.117797258A>G single nucleotide variant not provided [RCV005121427] Chr11:117797258 [GRCh38]
Chr11:117667973 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5915G>C (p.Arg1972Thr) single nucleotide variant not provided [RCV005065501] Chr11:117428575 [GRCh38]
Chr11:117299291 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3925C>T (p.Leu1309=) single nucleotide variant not provided [RCV005172888] Chr11:117439874 [GRCh38]
Chr11:117310590 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1656G>C (p.Val552=) single nucleotide variant not provided [RCV005062060] Chr11:117516594 [GRCh38]
Chr11:117387309 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2499C>T (p.Arg833=) single nucleotide variant not provided [RCV005105773] Chr11:117482023 [GRCh38]
Chr11:117352738 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.743C>T (p.Thr248Ile) single nucleotide variant not provided [RCV005065996] Chr11:117524999 [GRCh38]
Chr11:117395714 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4058T>C (p.Val1353Ala) single nucleotide variant not provided [RCV005110201]|not specified [RCV004920365] Chr11:117439352 [GRCh38]
Chr11:117310068 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6051C>G (p.His2017Gln) single nucleotide variant not specified [RCV004920366] Chr11:117428439 [GRCh38]
Chr11:117299155 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5750G>A (p.Arg1917His) single nucleotide variant not provided [RCV005068742] Chr11:117428740 [GRCh38]
Chr11:117299456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1908G>T (p.Val636=) single nucleotide variant not provided [RCV005128709] Chr11:117505608 [GRCh38]
Chr11:117376323 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2228G>A (p.Arg743His) single nucleotide variant not provided [RCV005115375] Chr11:117503976 [GRCh38]
Chr11:117374691 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.-134C>G single nucleotide variant not provided [RCV005177081] Chr11:117797213 [GRCh38]
Chr11:117667928 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1776C>G (p.Ala592=) single nucleotide variant not provided [RCV005158183] Chr11:117516474 [GRCh38]
Chr11:117387189 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.364G>C (p.Val122Leu) single nucleotide variant not provided [RCV005161006] Chr11:117780493 [GRCh38]
Chr11:117651208 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1122C>A (p.Thr374=) single nucleotide variant not provided [RCV005069145] Chr11:117521221 [GRCh38]
Chr11:117391936 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4409T>A (p.Ile1470Asn) single nucleotide variant not provided [RCV005152392] Chr11:117437918 [GRCh38]
Chr11:117308634 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4114G>A (p.Asp1372Asn) single nucleotide variant not provided [RCV005131676] Chr11:117439296 [GRCh38]
Chr11:117310012 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4051C>T (p.Arg1351Cys) single nucleotide variant not provided [RCV005068475] Chr11:117439359 [GRCh38]
Chr11:117310075 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1422C>A (p.Gly474=) single nucleotide variant not provided [RCV005197234] Chr11:117518554 [GRCh38]
Chr11:117389269 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3487T>A (p.Tyr1163Asn) single nucleotide variant not provided [RCV005198409] Chr11:117458835 [GRCh38]
Chr11:117329551 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5375-4C>T single nucleotide variant not provided [RCV005152651] Chr11:117431037 [GRCh38]
Chr11:117301753 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2062+17C>T single nucleotide variant not provided [RCV005071244] Chr11:117505437 [GRCh38]
Chr11:117376152 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3293G>A (p.Arg1098Gln) single nucleotide variant not provided [RCV005178997] Chr11:117461569 [GRCh38]
Chr11:117332285 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4520G>C (p.Gly1507Ala) single nucleotide variant not provided [RCV005129554] Chr11:117437322 [GRCh38]
Chr11:117308038 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4244-8C>T single nucleotide variant not provided [RCV005130776] Chr11:117438091 [GRCh38]
Chr11:117308807 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4837C>A (p.Arg1613Ser) single nucleotide variant not provided [RCV005082872] Chr11:117435683 [GRCh38]
Chr11:117306399 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1783+14A>G single nucleotide variant not provided [RCV005071470] Chr11:117516453 [GRCh38]
Chr11:117387168 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4091C>T (p.Thr1364Met) single nucleotide variant not provided [RCV005078345] Chr11:117439319 [GRCh38]
Chr11:117310035 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2816A>C (p.Asn939Thr) single nucleotide variant not provided [RCV005134605] Chr11:117472006 [GRCh38]
Chr11:117342721 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3204C>T (p.Ala1068=) single nucleotide variant not provided [RCV005158740] Chr11:117465003 [GRCh38]
Chr11:117335719 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3318G>A (p.Val1106=) single nucleotide variant not provided [RCV005158756] Chr11:117461544 [GRCh38]
Chr11:117332260 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2633G>C (p.Gly878Ala) single nucleotide variant not provided [RCV005119793] Chr11:117481197 [GRCh38]
Chr11:117351912 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6102G>A (p.Gly2034=) single nucleotide variant not provided [RCV005202666] Chr11:117428388 [GRCh38]
Chr11:117299104 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2063-9_2071del deletion not provided [RCV005129916] Chr11:117505035..117505052 [GRCh38]
Chr11:117375750..117375767 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4945C>A (p.Pro1649Thr) single nucleotide variant not provided [RCV005126530] Chr11:117433219 [GRCh38]
Chr11:117303935 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2785+5G>T single nucleotide variant not provided [RCV005121381] Chr11:117480438 [GRCh38]
Chr11:117351153 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3195G>A (p.Val1065=) single nucleotide variant not provided [RCV005159016] Chr11:117465012 [GRCh38]
Chr11:117335728 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2406G>C (p.Lys802Asn) single nucleotide variant not provided [RCV005079896] Chr11:117482116 [GRCh38]
Chr11:117352831 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1062G>A (p.Leu354=) single nucleotide variant not provided [RCV005192847] Chr11:117521281 [GRCh38]
Chr11:117391996 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1534C>T (p.Arg512Trp) single nucleotide variant not provided [RCV005186516] Chr11:117516716 [GRCh38]
Chr11:117387431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1784-8C>T single nucleotide variant not provided [RCV005135547] Chr11:117505740 [GRCh38]
Chr11:117376455 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5480C>T (p.Ala1827Val) single nucleotide variant not provided [RCV005080064] Chr11:117430928 [GRCh38]
Chr11:117301644 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2538C>T (p.Asp846=) single nucleotide variant not provided [RCV005156788] Chr11:117481984 [GRCh38]
Chr11:117352699 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4609T>C (p.Phe1537Leu) single nucleotide variant not provided [RCV005159241] Chr11:117437233 [GRCh38]
Chr11:117307949 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5937C>G (p.Pro1979=) single nucleotide variant not provided [RCV005074116] Chr11:117428553 [GRCh38]
Chr11:117299269 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.207C>T (p.Asp69=) single nucleotide variant not provided [RCV005079156] Chr11:117780650 [GRCh38]
Chr11:117651365 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3456G>A (p.Val1152=) single nucleotide variant not provided [RCV005138817] Chr11:117458866 [GRCh38]
Chr11:117329582 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.937+7C>T single nucleotide variant not provided [RCV005069215] Chr11:117524798 [GRCh38]
Chr11:117395513 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.905C>T (p.Ser302Leu) single nucleotide variant not provided [RCV005187651] Chr11:117524837 [GRCh38]
Chr11:117395552 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3525C>T (p.Asp1175=) single nucleotide variant not provided [RCV005187895] Chr11:117458797 [GRCh38]
Chr11:117329513 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5686+18C>A single nucleotide variant not provided [RCV005081908] Chr11:117430704 [GRCh38]
Chr11:117301420 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.574G>A (p.Ala192Thr) single nucleotide variant not provided [RCV005193457] Chr11:117532460 [GRCh38]
Chr11:117403175 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.144G>A (p.Pro48=) single nucleotide variant not provided [RCV005144101] Chr11:117780713 [GRCh38]
Chr11:117651428 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3211C>T (p.Arg1071Trp) single nucleotide variant not provided [RCV005191047] Chr11:117464996 [GRCh38]
Chr11:117335712 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.891C>T (p.Thr297=) single nucleotide variant not provided [RCV005168893] Chr11:117524851 [GRCh38]
Chr11:117395566 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.6017C>T (p.Pro2006Leu) single nucleotide variant not provided [RCV005144353] Chr11:117428473 [GRCh38]
Chr11:117299189 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3569-6G>C single nucleotide variant not provided [RCV005142764] Chr11:117450694 [GRCh38]
Chr11:117321410 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5554G>A (p.Ala1852Thr) single nucleotide variant not provided [RCV005072054] Chr11:117430854 [GRCh38]
Chr11:117301570 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5995C>T (p.Pro1999Ser) single nucleotide variant not provided [RCV005180874] Chr11:117428495 [GRCh38]
Chr11:117299211 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3316G>T (p.Val1106Leu) single nucleotide variant not provided [RCV005124941] Chr11:117461546 [GRCh38]
Chr11:117332262 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2091C>T (p.Asn697=) single nucleotide variant not provided [RCV005116366] Chr11:117505015 [GRCh38]
Chr11:117375730 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.547T>C (p.Tyr183His) single nucleotide variant not provided [RCV005137960] Chr11:117532487 [GRCh38]
Chr11:117403202 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5906T>C (p.Leu1969Ser) single nucleotide variant not provided [RCV005169834] Chr11:117428584 [GRCh38]
Chr11:117299300 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2743A>G (p.Ser915Gly) single nucleotide variant not provided [RCV005192738] Chr11:117480485 [GRCh38]
Chr11:117351200 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2870T>C (p.Val957Ala) single nucleotide variant not provided [RCV005178801] Chr11:117471952 [GRCh38]
Chr11:117342667 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3084G>C (p.Glu1028Asp) single nucleotide variant not provided [RCV005202211] Chr11:117465123 [GRCh38]
Chr11:117335839 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1429A>G (p.Ile477Val) single nucleotide variant not provided [RCV005075976] Chr11:117518547 [GRCh38]
Chr11:117389262 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4454A>G (p.Gln1485Arg) single nucleotide variant not provided [RCV005116880] Chr11:117437388 [GRCh38]
Chr11:117308104 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5774C>A (p.Pro1925His) single nucleotide variant not provided [RCV005119077] Chr11:117428716 [GRCh38]
Chr11:117299432 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4052G>A (p.Arg1351His) single nucleotide variant not provided [RCV005192069] Chr11:117439358 [GRCh38]
Chr11:117310074 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5526C>T (p.Asp1842=) single nucleotide variant not provided [RCV005167053] Chr11:117430882 [GRCh38]
Chr11:117301598 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4017C>T (p.His1339=) single nucleotide variant not provided [RCV005080896] Chr11:117439393 [GRCh38]
Chr11:117310109 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.312C>T (p.Thr104=) single nucleotide variant not provided [RCV005177516] Chr11:117780545 [GRCh38]
Chr11:117651260 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3266-12T>C single nucleotide variant not provided [RCV005070913] Chr11:117461608 [GRCh38]
Chr11:117332324 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.246G>A (p.Leu82=) single nucleotide variant not provided [RCV005130076] Chr11:117780611 [GRCh38]
Chr11:117651326 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3532C>T (p.Arg1178Cys) single nucleotide variant not provided [RCV005192111] Chr11:117458790 [GRCh38]
Chr11:117329506 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1124C>T (p.Ser375Leu) single nucleotide variant not provided [RCV005132646] Chr11:117521219 [GRCh38]
Chr11:117391934 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1290G>A (p.Ala430=) single nucleotide variant not provided [RCV005078197] Chr11:117518686 [GRCh38]
Chr11:117389401 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4551C>T (p.Tyr1517=) single nucleotide variant not provided [RCV005084275] Chr11:117437291 [GRCh38]
Chr11:117308007 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2263C>T (p.Arg755Cys) single nucleotide variant not provided [RCV005076813] Chr11:117503941 [GRCh38]
Chr11:117374656 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5828A>C (p.His1943Pro) single nucleotide variant not provided [RCV005078882] Chr11:117428662 [GRCh38]
Chr11:117299378 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2378C>T (p.Ser793Phe) single nucleotide variant not provided [RCV005071300] Chr11:117482144 [GRCh38]
Chr11:117352859 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4817T>C (p.Val1606Ala) single nucleotide variant not provided [RCV005193186] Chr11:117435703 [GRCh38]
Chr11:117306419 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3708+9G>T single nucleotide variant not provided [RCV005117804] Chr11:117450540 [GRCh38]
Chr11:117321256 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.321C>T (p.Asn107=) single nucleotide variant not provided [RCV005191343] Chr11:117780536 [GRCh38]
Chr11:117651251 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1478G>A (p.Ser493Asn) single nucleotide variant not provided [RCV005080239] Chr11:117518498 [GRCh38]
Chr11:117389213 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3540T>C (p.Ser1180=) single nucleotide variant not provided [RCV005190011] Chr11:117458782 [GRCh38]
Chr11:117329498 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5844T>C (p.Pro1948=) single nucleotide variant not provided [RCV005134746] Chr11:117428646 [GRCh38]
Chr11:117299362 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1385C>T (p.Ser462Leu) single nucleotide variant not provided [RCV005082090] Chr11:117518591 [GRCh38]
Chr11:117389306 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1631T>C (p.Leu544Pro) single nucleotide variant not provided [RCV005083687] Chr11:117516619 [GRCh38]
Chr11:117387334 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.374A>C (p.Glu125Ala) single nucleotide variant not provided [RCV005118430] Chr11:117776928 [GRCh38]
Chr11:117647643 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1511-18C>G single nucleotide variant not provided [RCV005118679] Chr11:117516757 [GRCh38]
Chr11:117387472 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4054G>A (p.Ala1352Thr) single nucleotide variant not provided [RCV005114115] Chr11:117439356 [GRCh38]
Chr11:117310072 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.24G>A (p.Leu8=) single nucleotide variant not provided [RCV005131287] Chr11:117797056 [GRCh38]
Chr11:117667771 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4179A>G (p.Lys1393=) single nucleotide variant not provided [RCV005130529] Chr11:117438949 [GRCh38]
Chr11:117309665 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5665A>G (p.Ile1889Val) single nucleotide variant not provided [RCV005068826] Chr11:117430743 [GRCh38]
Chr11:117301459 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5374+3G>A single nucleotide variant not provided [RCV005069549] Chr11:117431531 [GRCh38]
Chr11:117302247 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4452C>G (p.Asp1484Glu) single nucleotide variant not provided [RCV005156522] Chr11:117437390 [GRCh38]
Chr11:117308106 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.5734C>G (p.Arg1912Gly) single nucleotide variant not provided [RCV005108546] Chr11:117428756 [GRCh38]
Chr11:117299472 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.1009G>A (p.Ala337Thr) single nucleotide variant not provided [RCV005203225] Chr11:117521334 [GRCh38]
Chr11:117392049 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3636C>A (p.Leu1212=) single nucleotide variant not provided [RCV005203228] Chr11:117450621 [GRCh38]
Chr11:117321337 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.421G>A (p.Val141Met) single nucleotide variant not provided [RCV005074213] Chr11:117776881 [GRCh38]
Chr11:117647596 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3895G>A (p.Val1299Met) single nucleotide variant not provided [RCV005070594] Chr11:117439904 [GRCh38]
Chr11:117310620 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2657-19C>G single nucleotide variant not provided [RCV005180274] Chr11:117480590 [GRCh38]
Chr11:117351305 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.1449C>G (p.Tyr483Ter) single nucleotide variant not provided [RCV005204471] Chr11:117518527 [GRCh38]
Chr11:117389242 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4433-12C>G single nucleotide variant not provided [RCV005069486] Chr11:117437421 [GRCh38]
Chr11:117308137 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.5449C>T (p.His1817Tyr) single nucleotide variant not provided [RCV005108773] Chr11:117430959 [GRCh38]
Chr11:117301675 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.2596A>G (p.Ser866Gly) single nucleotide variant not provided [RCV005198593] Chr11:117481234 [GRCh38]
Chr11:117351949 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4195A>G (p.Ile1399Val) single nucleotide variant not provided [RCV005126318] Chr11:117438933 [GRCh38]
Chr11:117309649 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3890G>A (p.Gly1297Asp) single nucleotide variant not provided [RCV005072605] Chr11:117439909 [GRCh38]
Chr11:117310625 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3569-4T>C single nucleotide variant not provided [RCV005185107] Chr11:117450692 [GRCh38]
Chr11:117321408 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.46+18G>T single nucleotide variant not provided [RCV005074439] Chr11:117797016 [GRCh38]
Chr11:117667731 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.2098G>A (p.Asp700Asn) single nucleotide variant not provided [RCV005177263] Chr11:117505008 [GRCh38]
Chr11:117375723 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.938-6G>A single nucleotide variant not provided [RCV005184128] Chr11:117521411 [GRCh38]
Chr11:117392126 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.782A>G (p.Lys261Arg) single nucleotide variant not provided [RCV005124170] Chr11:117524960 [GRCh38]
Chr11:117395675 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.3963G>T (p.Val1321=) single nucleotide variant not provided [RCV005125442] Chr11:117439836 [GRCh38]
Chr11:117310552 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.3763C>T (p.Leu1255=) single nucleotide variant not provided [RCV005178241] Chr11:117443985 [GRCh38]
Chr11:117314701 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4151C>G (p.Pro1384Arg) single nucleotide variant not provided [RCV005153515] Chr11:117438977 [GRCh38]
Chr11:117309693 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.6043G>A (p.Gly2015Ser) single nucleotide variant not provided [RCV005069798] Chr11:117428447 [GRCh38]
Chr11:117299163 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4433-17T>C single nucleotide variant not provided [RCV005069946] Chr11:117437426 [GRCh38]
Chr11:117308142 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.672G>T (p.Ser224=) single nucleotide variant not provided [RCV005177416] Chr11:117525070 [GRCh38]
Chr11:117395785 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.4224T>C (p.Asn1408=) single nucleotide variant not provided [RCV005205143] Chr11:117438904 [GRCh38]
Chr11:117309620 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.617G>C (p.Gly206Ala) single nucleotide variant not provided [RCV005074797] Chr11:117532417 [GRCh38]
Chr11:117403132 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_020693.4(DSCAML1):c.4244-6C>T single nucleotide variant not provided [RCV005151429] Chr11:117438089 [GRCh38]
Chr11:117308805 [GRCh37]
Chr11:11q23.3		 likely benign
NM_020693.4(DSCAML1):c.330C>G (p.Gly110=) single nucleotide variant not provided [RCV005197236] Chr11:117780527 [GRCh38]
Chr11:117651242 [GRCh37]
Chr11:11q23.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1145
Count of miRNA genes:498
Interacting mature miRNAs:547
Transcripts:ENST00000321322, ENST00000525836, ENST00000527706
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
596981141GWAS1100660_Hmemory performance QTL GWAS1100660 (human)0.000005memory performance11117672863117672864Human
597333403GWAS1429477_Hneuroimaging measurement QTL GWAS1429477 (human)4e-08neuroimaging measurement11117524107117524108Human
597332508GWAS1428582_Hneuroimaging measurement QTL GWAS1428582 (human)7e-09neuroimaging measurement11117527684117527685Human
597332499GWAS1428573_Hneuroimaging measurement QTL GWAS1428573 (human)0.000001neuroimaging measurement11117536024117536025Human
597248402GWAS1344476_Hparenchymal hematoma, response to recombinant tissue-plasminogen activator QTL GWAS1344476 (human)0.000001parenchymal hematoma, response to recombinant tissue-plasminogen activator11117431102117431103Human
597205527GWAS1301601_Hprotein measurement QTL GWAS1301601 (human)3e-10protein measurement11117778323117778324Human
597199496GWAS1295570_Hmemory performance QTL GWAS1295570 (human)0.000005memory performance11117672863117672864Human
597055491GWAS1151565_Hage at onset, Myopia QTL GWAS1151565 (human)6e-12age at onset, Myopia11117786059117786060Human
407021909GWAS670885_Htriglyceride measurement QTL GWAS670885 (human)3e-29triglyceride measurementblood triglyceride level (CMO:0000118)11117661016117661017Human
596980098GWAS1099617_Hmemory performance QTL GWAS1099617 (human)0.000003memory performance11117672863117672864Human
597057679GWAS1153753_Hrefractive error, age at onset, Myopia QTL GWAS1153753 (human)6e-14refractive error, age at onset, Myopia11117786964117786965Human
597336839GWAS1432913_HRS-10-hydroxywarfarin measurement QTL GWAS1432913 (human)0.00001RS-10-hydroxywarfarin measurement11117696709117696710Human
597255609GWAS1351683_Htriglyceride measurement QTL GWAS1351683 (human)1e-11triglyceride measurementblood triglyceride level (CMO:0000118)11117431102117431103Human
597081398GWAS1177472_Hcognitive decline measurement QTL GWAS1177472 (human)0.0000005cognitive behavior trait (VT:0010450)11117659180117659181Human
597052599GWAS1148673_Hfatty acid measurement QTL GWAS1148673 (human)0.000002fatty acid measurement11117666417117666418Human
597107007GWAS1203081_Hprotein measurement QTL GWAS1203081 (human)1e-11protein measurement11117497467117497468Human
597322163GWAS1418237_Hessential tremor QTL GWAS1418237 (human)0.000007essential tremor11117470314117470315Human
597240370GWAS1336444_Hretinal vasculature measurement QTL GWAS1336444 (human)5e-08retina blood vessel morphology trait (VT:0002792)11117786059117786060Human
597111334GWAS1207408_Hprotein measurement QTL GWAS1207408 (human)1e-08protein measurement11117778323117778324Human
597180842GWAS1276916_Heducational attainment QTL GWAS1276916 (human)3e-09educational attainment11117506803117506804Human
597135521GWAS1231595_Hmemory performance QTL GWAS1231595 (human)0.000003memory performance11117672863117672864Human
597277988GWAS1374062_Hinsomnia QTL GWAS1374062 (human)0.0000006insomnia11117575288117575289Human
597412683GWAS1508757_HAbnormality of refraction QTL GWAS1508757 (human)3e-34Abnormality of refraction11117800376117800377Human
597469133GWAS1565207_HHypermetropia, Myopia QTL GWAS1565207 (human)0.0000003Hypermetropia, Myopia11117800774117800775Human
597392591GWAS1488665_Hrefractive error QTL GWAS1488665 (human)2e-13refractive error11117799567117799568Human
597473225GWAS1569299_HHypermetropia QTL GWAS1569299 (human)0.0000002Hypermetropia11117800926117800927Human
597212366GWAS1308440_Htriglyceride measurement QTL GWAS1308440 (human)2e-14triglyceride measurementblood triglyceride level (CMO:0000118)11117628414117628415Human
597362113GWAS1458187_HMyopia QTL GWAS1458187 (human)1e-11Myopia11117801846117801847Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
597147851GWAS1243925_Hsmoking initiation QTL GWAS1243925 (human)8e-11smoking initiation11117791019117791020Human
597147849GWAS1243923_Hsmoking initiation QTL GWAS1243923 (human)1e-12smoking initiation11117539985117539986Human
597147848GWAS1243922_Hsmoking initiation QTL GWAS1243922 (human)3e-12smoking initiation11117539792117539793Human
597145847GWAS1241921_Htriglyceride measurement QTL GWAS1241921 (human)1e-13triglyceride measurementblood triglyceride level (CMO:0000118)11117512084117512085Human
597145846GWAS1241920_Htriglyceride measurement QTL GWAS1241920 (human)1e-09triglyceride measurementblood triglyceride level (CMO:0000118)11117455553117455554Human
597145845GWAS1241919_Htriglyceride measurement QTL GWAS1241919 (human)8e-10triglyceride measurementblood triglyceride level (CMO:0000118)11117445830117445831Human
597145844GWAS1241918_Htriglyceride measurement QTL GWAS1241918 (human)4e-10triglyceride measurementblood triglyceride level (CMO:0000118)11117431102117431103Human
597348095GWAS1444169_Hneuroimaging measurement QTL GWAS1444169 (human)2e-09neuroimaging measurement11117527684117527685Human
597036787GWAS1132861_Hhippocampal volume QTL GWAS1132861 (human)0.0000001hippocampal volume11117780161117780162Human
597157501GWAS1253575_Htriglyceride:HDL cholesterol ratio QTL GWAS1253575 (human)2e-09blood triglyceride amount (VT:0002644)11117512084117512085Human
597145849GWAS1241923_Htriglyceride measurement QTL GWAS1241923 (human)3e-08triglyceride measurementblood triglyceride level (CMO:0000118)11117704992117704993Human
597145848GWAS1241922_Htriglyceride measurement QTL GWAS1241922 (human)1e-08triglyceride measurementblood triglyceride level (CMO:0000118)11117515352117515353Human
596951396GWAS1070915_Hdementia QTL GWAS1070915 (human)0.000007dementia11117454249117454250Human
597157479GWAS1253553_Htriglyceride:HDL cholesterol ratio QTL GWAS1253553 (human)5e-12blood triglyceride amount (VT:0002644)11117512084117512085Human
407048754GWAS697730_Hfructose measurement, glucose measurement, galactose measurement QTL GWAS697730 (human)0.0000003fructose absorption trait (VT:0001668)blood glucose level (CMO:0000046)11117518217117518218Human
407041585GWAS690561_Hlipoprotein A measurement QTL GWAS690561 (human)5e-09lipoprotein A measurement11117675767117675768Human
407028662GWAS677638_Hage at menarche QTL GWAS677638 (human)0.000003age at menarche11117518217117518218Human
597333871GWAS1429945_HRS-warfarin measurement QTL GWAS1429945 (human)0.000007RS-warfarin measurement11117458518117458519Human
597260015GWAS1356089_Hdementia QTL GWAS1356089 (human)0.000007dementia11117454249117454250Human
596962285GWAS1081804_Hbrain measurement QTL GWAS1081804 (human)8e-19brain measurement11117528889117528890Human

Markers in Region
D11S4092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,519,698 - 117,519,900UniSTSGRCh37
Build 3611117,024,908 - 117,025,110RGDNCBI36
Celera11114,677,537 - 114,677,739RGD
Cytogenetic Map11q23UniSTS
HuRef11113,452,992 - 113,453,184UniSTS
Marshfield Genetic Map11112.33UniSTS
Marshfield Genetic Map11112.33RGD
Genethon Genetic Map11117.2UniSTS
deCODE Assembly Map11119.5UniSTS
D11S4127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,644,209 - 117,644,303UniSTSGRCh37
Build 3611117,149,419 - 117,149,513RGDNCBI36
Celera11114,802,054 - 114,802,148RGD
Cytogenetic Map11q23UniSTS
HuRef11113,577,726 - 113,577,824UniSTS
Marshfield Genetic Map11112.33RGD
Marshfield Genetic Map11112.33UniSTS
Genethon Genetic Map11117.3UniSTS
SHGC-30873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,603,623 - 117,603,722UniSTSGRCh37
Build 3611117,108,833 - 117,108,932RGDNCBI36
Celera11114,761,463 - 114,761,562RGD
Cytogenetic Map11q23UniSTS
HuRef11113,537,213 - 113,537,312UniSTS
GeneMap99-GB4 RH Map11378.96UniSTS
Whitehead-RH Map11520.3UniSTS
GeneMap99-G3 RH Map115190.0UniSTS
D11S4559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,565,203 - 117,565,336UniSTSGRCh37
Build 3611117,070,413 - 117,070,546RGDNCBI36
Celera11114,723,056 - 114,723,189RGD
Cytogenetic Map11q23UniSTS
HuRef11113,498,806 - 113,498,939UniSTS
Stanford-G3 RH Map115197.0UniSTS
SHGC-34966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,503,044 - 117,503,194UniSTSGRCh37
Build 3611117,008,254 - 117,008,404RGDNCBI36
Celera11114,660,885 - 114,661,035RGD
Cytogenetic Map11q23UniSTS
HuRef11113,436,339 - 113,436,489UniSTS
GeneMap99-GB4 RH Map11378.16UniSTS
Whitehead-RH Map11520.3UniSTS
GeneMap99-G3 RH Map115190.0UniSTS
SHGC-31198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,350,130 - 117,350,259UniSTSGRCh37
Build 3611116,855,340 - 116,855,469RGDNCBI36
Celera11114,507,791 - 114,507,920RGD
Cytogenetic Map11q23UniSTS
HuRef11113,283,353 - 113,283,482UniSTS
GeneMap99-GB4 RH Map11378.77UniSTS
Whitehead-RH Map11521.1UniSTS
GeneMap99-G3 RH Map115212.0UniSTS
D11S29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,488,360 - 117,488,515UniSTSGRCh37
Build 3611116,993,570 - 116,993,725RGDNCBI36
Celera11114,646,213 - 114,646,354RGD
Cytogenetic Map11q23UniSTS
HuRef11113,421,670 - 113,421,811UniSTS
SHGC-78717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,332,347 - 117,332,581UniSTSGRCh37
Build 3611116,837,557 - 116,837,791RGDNCBI36
Celera11114,490,007 - 114,490,241RGD
Cytogenetic Map11q23UniSTS
HuRef11113,265,573 - 113,265,807UniSTS
TNG Radiation Hybrid Map1153953.0UniSTS
RH120709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,574,184 - 117,574,485UniSTSGRCh37
Build 3611117,079,394 - 117,079,695RGDNCBI36
Celera11114,732,037 - 114,732,338RGD
Cytogenetic Map11q23UniSTS
HuRef11113,507,787 - 113,508,088UniSTS
TNG Radiation Hybrid Map1154203.0UniSTS
G59923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,521,652 - 117,521,882UniSTSGRCh37
Build 3611117,026,862 - 117,027,092RGDNCBI36
Celera11114,679,491 - 114,679,721RGD
Cytogenetic Map11q23UniSTS
HuRef11113,454,944 - 113,455,174UniSTS
TNG Radiation Hybrid Map1154231.0UniSTS
G60568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,644,153 - 117,644,435UniSTSGRCh37
Build 3611117,149,363 - 117,149,645RGDNCBI36
Celera11114,801,998 - 114,802,280RGD
Cytogenetic Map11q23UniSTS
HuRef11113,577,670 - 113,577,956UniSTS
TNG Radiation Hybrid Map1154140.0UniSTS
TNG Radiation Hybrid Map1101421.0UniSTS
D11S1373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,337,695 - 117,337,843UniSTSGRCh37
Build 3611116,842,905 - 116,843,053RGDNCBI36
Celera11114,495,355 - 114,495,503RGD
Cytogenetic Map11q23UniSTS
HuRef11113,270,921 - 113,271,069UniSTS
D11S1376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,359,109 - 117,359,415UniSTSGRCh37
Build 3611116,864,319 - 116,864,625RGDNCBI36
Celera11114,516,771 - 114,517,077RGD
Cytogenetic Map11q23UniSTS
HuRef11113,292,331 - 113,292,637UniSTS
D11S1858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,531,294 - 117,531,532UniSTSGRCh37
Build 3611117,036,504 - 117,036,742RGDNCBI36
Celera11114,689,129 - 114,689,367RGD
Cytogenetic Map11q23UniSTS
D11S2085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,359,206 - 117,359,334UniSTSGRCh37
Build 3611116,864,416 - 116,864,544RGDNCBI36
Celera11114,516,868 - 114,516,996RGD
Cytogenetic Map11q23UniSTS
HuRef11113,292,428 - 113,292,556UniSTS
D11S2829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,528,286 - 117,528,496UniSTSGRCh37
Build 3611117,033,496 - 117,033,706RGDNCBI36
Celera11114,686,121 - 114,686,331RGD
Cytogenetic Map11q23UniSTS
HuRef11113,461,578 - 113,461,788UniSTS
D11S3005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,516,133 - 117,516,273UniSTSGRCh37
Build 3611117,021,343 - 117,021,483RGDNCBI36
Celera11114,673,970 - 114,674,110RGD
Cytogenetic Map11q23UniSTS
HuRef11113,449,428 - 113,449,568UniSTS
D11S3345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,516,073 - 117,516,408UniSTSGRCh37
Build 3611117,021,283 - 117,021,618RGDNCBI36
Celera11114,673,910 - 114,674,245RGD
Cytogenetic Map11q23UniSTS
HuRef11113,449,368 - 113,449,703UniSTS
SHGC-105111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,644,590 - 117,644,867UniSTSGRCh37
Build 3611117,149,800 - 117,150,077RGDNCBI36
Celera11114,802,435 - 114,802,712RGD
Cytogenetic Map11q23UniSTS
HuRef11113,578,111 - 113,578,388UniSTS
TNG Radiation Hybrid Map1154170.0UniSTS
SHGC-141970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,656,405 - 117,656,701UniSTSGRCh37
Build 3611117,161,615 - 117,161,911RGDNCBI36
Celera11114,814,254 - 114,814,550RGD
Cytogenetic Map11q23UniSTS
HuRef11113,589,933 - 113,590,229UniSTS
TNG Radiation Hybrid Map1154154.0UniSTS
SHGC-147206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,385,128 - 117,385,264UniSTSGRCh37
Build 3611116,890,338 - 116,890,474RGDNCBI36
Celera11114,542,790 - 114,542,926RGD
Cytogenetic Map11q23UniSTS
HuRef11113,318,368 - 113,318,504UniSTS
TNG Radiation Hybrid Map1153985.0UniSTS
D11S2472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,475,676 - 117,475,817UniSTSGRCh37
Build 3611116,980,886 - 116,981,027RGDNCBI36
Celera11114,633,286 - 114,633,427RGD
CeleraY2,303,934 - 2,304,795UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic MapYp11.2UniSTS
HuRef11113,408,969 - 113,409,110UniSTS
SHGC-144571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,458,491 - 117,458,816UniSTSGRCh37
Build 3611116,963,701 - 116,964,026RGDNCBI36
Celera11114,616,109 - 114,616,434RGD
Cytogenetic Map11q23UniSTS
HuRef11113,391,923 - 113,392,248UniSTS
TNG Radiation Hybrid Map1154059.0UniSTS
RH68617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,503,182 - 117,503,335UniSTSGRCh37
Build 3611117,008,392 - 117,008,545RGDNCBI36
Celera11114,661,023 - 114,661,176RGD
Cytogenetic Map11q23UniSTS
HuRef11113,436,477 - 113,436,630UniSTS
GeneMap99-GB4 RH Map11378.47UniSTS
WI-14137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,554,991 - 117,555,140UniSTSGRCh37
Build 3611117,060,201 - 117,060,350RGDNCBI36
Celera11114,712,841 - 114,712,990RGD
Cytogenetic Map11q23UniSTS
HuRef11113,488,585 - 113,488,734UniSTS
GeneMap99-GB4 RH Map11378.96UniSTS
Whitehead-RH Map11521.2UniSTS
D11S4473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,392,304 - 117,392,440UniSTSGRCh37
Build 3611116,897,514 - 116,897,650RGDNCBI36
Celera11114,549,960 - 114,550,096RGD
Cytogenetic Map11q23UniSTS
HuRef11113,325,538 - 113,325,674UniSTS
D11S490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,488,314 - 117,488,476UniSTSGRCh37
GRCh371172,011,727 - 72,011,864UniSTSGRCh37
Build 3611116,993,524 - 116,993,686RGDNCBI36
Celera1169,313,137 - 69,313,274UniSTS
Celera11114,646,167 - 114,646,315RGD
Cytogenetic Map11q23UniSTS
HuRef11113,421,624 - 113,421,772UniSTS
HuRef1168,304,842 - 68,304,979UniSTS
D11S1091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,434,378 - 117,434,627UniSTSGRCh37
Build 3611116,939,588 - 116,939,837RGDNCBI36
Celera11114,592,020 - 114,592,269RGD
Cytogenetic Map11q23UniSTS
HuRef11113,367,557 - 113,367,806UniSTS
D11S1163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,485,627 - 117,485,884UniSTSGRCh37
Build 3611116,990,837 - 116,991,094RGDNCBI36
Celera11114,643,480 - 114,643,737RGD
Cytogenetic Map11q23UniSTS
HuRef11113,418,937 - 113,419,194UniSTS
D11S2060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,563,080 - 117,563,309UniSTSGRCh37
GRCh3711117,563,049 - 117,563,191UniSTSGRCh37
Build 3611117,068,290 - 117,068,519RGDNCBI36
Celera11114,720,900 - 114,721,042UniSTS
Celera11114,720,931 - 114,721,160RGD
Cytogenetic Map11q23UniSTS
HuRef11113,496,644 - 113,496,786UniSTS
HuRef11113,496,675 - 113,496,904UniSTS
TNG Radiation Hybrid Map1154209.0UniSTS
Stanford-G3 RH Map115190.0UniSTS
D11S4026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,358,711 - 117,358,891UniSTSGRCh37
Build 3611116,863,921 - 116,864,101RGDNCBI36
Celera11114,516,373 - 114,516,553RGD
Cytogenetic Map11q23UniSTS
HuRef11113,291,933 - 113,292,113UniSTS
Whitehead-RH Map11506.7UniSTS
DSCAML1__4777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,298,353 - 117,298,960UniSTSGRCh37
Build 3611116,803,563 - 116,804,170RGDNCBI36
Celera11114,456,012 - 114,456,619RGD
HuRef11113,231,934 - 113,232,541UniSTS
G54698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,521,648 - 117,521,997UniSTSGRCh37
Celera11114,679,487 - 114,679,836UniSTS
Cytogenetic Map11q23UniSTS
HuRef11113,454,940 - 113,455,289UniSTS
D10Bir8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,031,269 - 74,032,911UniSTSGRCh37
Celera1067,315,022 - 67,316,663UniSTS
HuRef11113,581,588 - 113,583,076UniSTS
HuRef1068,025,745 - 68,027,386UniSTS
D11S2060  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q23UniSTS
TNG Radiation Hybrid Map1154209.0UniSTS
Stanford-G3 RH Map115190.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2336 2785 2224 4794 1655 2166 1 565 1690 406 2162 6892 6185 15 3664 823 1663 1494 165 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB032958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF304304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF304305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF334384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF491813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM665756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000321322   ⟹   ENSP00000315465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,427,773 - 117,797,261 (-)Ensembl
Ensembl Acc Id: ENST00000525836   ⟹   ENSP00000436387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,776,809 - 117,817,525 (-)Ensembl
Ensembl Acc Id: ENST00000527706   ⟹   ENSP00000434335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,427,773 - 117,797,091 (-)Ensembl
Ensembl Acc Id: ENST00000651172   ⟹   ENSP00000498407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,428,328 - 117,797,259 (-)Ensembl
Ensembl Acc Id: ENST00000651296   ⟹   ENSP00000498769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,427,772 - 117,797,216 (-)Ensembl
RefSeq Acc Id: NM_001367904   ⟹   NP_001354833
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,479,335 - 117,797,216 (-)NCBI
T2T-CHM13v2.011117,495,991 - 117,813,628 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367905   ⟹   NP_001354834
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,518,375 - 117,817,514 (-)NCBI
T2T-CHM13v2.011117,534,941 - 117,833,926 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020693   ⟹   NP_065744
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,427,772 - 117,797,216 (-)NCBI
GRCh3711117,298,489 - 117,667,976 (-)RGD
Build 3611116,803,699 - 117,173,186 (-)NCBI Archive
Celera11114,456,148 - 114,825,824 (-)RGD
HuRef11113,232,070 - 113,601,503 (-)ENTREZGENE
CHM1_111117,184,135 - 117,553,548 (-)NCBI
T2T-CHM13v2.011117,444,420 - 117,813,628 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542917   ⟹   XP_011541219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,427,772 - 117,797,216 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542918   ⟹   XP_011541220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,427,772 - 117,797,216 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542919   ⟹   XP_011541221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,427,772 - 117,519,145 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542921   ⟹   XP_011541223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,427,772 - 117,484,003 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542924   ⟹   XP_011541226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,427,772 - 117,486,827 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542925   ⟹   XP_011541227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,427,772 - 117,484,003 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054369451   ⟹   XP_054225426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011117,444,420 - 117,813,628 (-)NCBI
RefSeq Acc Id: XM_054369452   ⟹   XP_054225427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011117,444,420 - 117,813,628 (-)NCBI
RefSeq Acc Id: XM_054369453   ⟹   XP_054225428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011117,444,420 - 117,535,711 (-)NCBI
RefSeq Acc Id: XM_054369454   ⟹   XP_054225429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011117,444,420 - 117,500,659 (-)NCBI
RefSeq Acc Id: XM_054369455   ⟹   XP_054225430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011117,444,420 - 117,503,441 (-)NCBI
RefSeq Acc Id: XM_054369456   ⟹   XP_054225431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011117,444,420 - 117,500,659 (-)NCBI
RefSeq Acc Id: NP_065744   ⟸   NM_020693
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8WXU7 (UniProtKB/Swiss-Prot),   Q8TD84 (UniProtKB/Swiss-Prot),   Q8IZY4 (UniProtKB/Swiss-Prot),   Q8IZY3 (UniProtKB/Swiss-Prot),   Q76MU9 (UniProtKB/Swiss-Prot),   G3V1B5 (UniProtKB/Swiss-Prot),   Q9ULT7 (UniProtKB/Swiss-Prot),   A0A384DVL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541219   ⟸   XM_011542917
- Peptide Label: isoform X1
- UniProtKB: A0A384DVL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541220   ⟸   XM_011542918
- Peptide Label: isoform X2
- UniProtKB: A0A384DVL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541221   ⟸   XM_011542919
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011541226   ⟸   XM_011542924
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011541223   ⟸   XM_011542921
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011541227   ⟸   XM_011542925
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001354833   ⟸   NM_001367904
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001354834   ⟸   NM_001367905
- Peptide Label: isoform 3
Ensembl Acc Id: ENSP00000315465   ⟸   ENST00000321322
Ensembl Acc Id: ENSP00000498769   ⟸   ENST00000651296
Ensembl Acc Id: ENSP00000498407   ⟸   ENST00000651172
Ensembl Acc Id: ENSP00000436387   ⟸   ENST00000525836
Ensembl Acc Id: ENSP00000434335   ⟸   ENST00000527706
RefSeq Acc Id: XP_054225427   ⟸   XM_054369452
- Peptide Label: isoform X2
- UniProtKB: A0A384DVL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225426   ⟸   XM_054369451
- Peptide Label: isoform X1
- UniProtKB: A0A384DVL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225428   ⟸   XM_054369453
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054225430   ⟸   XM_054369455
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225429   ⟸   XM_054369454
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054225431   ⟸   XM_054369456
- Peptide Label: isoform X6
Protein Domains
Fibronectin type-III   Ig-like   Ig-like C2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TD84-F1-model_v2 AlphaFold Q8TD84 1-2053 view protein structure

Promoters
RGD ID:6788716
Promoter ID:HG_KWN:14289
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_020693
Position:
Human AssemblyChrPosition (strand)Source
Build 3611117,172,941 - 117,173,441 (-)MPROMDB
RGD ID:7222255
Promoter ID:EPDNEW_H16872
Type:initiation region
Name:DSCAML1_1
Description:DS cell adhesion molecule like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,797,193 - 117,797,253EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14656 AgrOrtholog
COSMIC DSCAML1 COSMIC
Ensembl Genes ENSG00000177103 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000321322.6 UniProtKB/TrEMBL
  ENST00000525836.1 UniProtKB/TrEMBL
  ENST00000527706.5 UniProtKB/Swiss-Prot
  ENST00000651172.1 UniProtKB/TrEMBL
  ENST00000651296 ENTREZGENE
  ENST00000651296.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000177103 GTEx
HGNC ID HGNC:14656 ENTREZGENE
Human Proteome Map DSCAML1 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57453 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57453 ENTREZGENE
OMIM 611782 OMIM
PANTHER BASIGIN RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FASCICLIN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38384 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384DVL8 ENTREZGENE, UniProtKB/TrEMBL
  DSCL1_HUMAN UniProtKB/Swiss-Prot
  E9PP71_HUMAN UniProtKB/TrEMBL
  G3V1B5 ENTREZGENE
  Q76MU9 ENTREZGENE
  Q8IZY3 ENTREZGENE
  Q8IZY4 ENTREZGENE
  Q8TD84 ENTREZGENE
  Q8WXU7 ENTREZGENE
  Q9ULT7 ENTREZGENE
UniProt Secondary G3V1B5 UniProtKB/Swiss-Prot
  Q76MU9 UniProtKB/Swiss-Prot
  Q8IZY3 UniProtKB/Swiss-Prot
  Q8IZY4 UniProtKB/Swiss-Prot
  Q8WXU7 UniProtKB/Swiss-Prot
  Q9ULT7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 DSCAML1  DS cell adhesion molecule like 1    Down syndrome cell adhesion molecule like 1  Symbol and/or name change 5135510 APPROVED