DDX41 (DEAD-box helicase 41) - 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: DDX41 (DEAD-box helicase 41) Homo sapiens
Analyze
Symbol: DDX41
Name: DEAD-box helicase 41
RGD ID: 1323380
HGNC Page HGNC:18674
Description: Enables RNA binding activity. Involved in cell differentiation; cell population proliferation; and mRNA splicing, via spliceosome. Located in spliceosomal complex. Part of catalytic step 2 spliceosome. Implicated in myeloproliferative neoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2900024F02Rik; ABS; Abstrakt; DEAD (Asp-Glu-Ala-Asp) box polypeptide 41; DEAD box protein 41; DEAD box protein abstrakt homolog; DEAD-box protein abstrakt; MGC8828; MPLPF; probable ATP-dependent RNA helicase DDX41; putative RNA helicase
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
GRCh385177,511,577 - 177,516,961 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5177,511,577 - 177,516,961 (-)EnsemblGRCh38hg38GRCh38
GRCh375176,938,578 - 176,943,962 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,871,184 - 176,876,573 (-)NCBINCBI36Build 36hg18NCBI36
Build 345176,871,184 - 176,876,573NCBI
Celera5171,557,772 - 171,563,161 (+)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,859,096 - 171,864,485 (-)NCBIHuRef
CHM1_15176,371,520 - 176,376,909 (-)NCBICHM1_1
T2T-CHM13v2.05178,054,559 - 178,059,943 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
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:8125298   PMID:10607561   PMID:11991638   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15489334   PMID:15635413   PMID:15690390   PMID:16344560   PMID:16565220   PMID:17081983  
PMID:17353931   PMID:17474147   PMID:18029348   PMID:19615732   PMID:19946888   PMID:20360068   PMID:20467437   PMID:21145461   PMID:21209461   PMID:21280222   PMID:21873635   PMID:21892174  
PMID:22365833   PMID:22658674   PMID:22681889   PMID:23142775   PMID:23443559   PMID:23752268   PMID:24711643   PMID:24778252   PMID:24981860   PMID:25416956   PMID:25920683   PMID:25921289  
PMID:26030138   PMID:26344197   PMID:26496610   PMID:26712909   PMID:26944477   PMID:27049334   PMID:27133828   PMID:27173435   PMID:27174803   PMID:27248496   PMID:27502187   PMID:27721487  
PMID:27928732   PMID:28348086   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28547672   PMID:28718761   PMID:28977470   PMID:28977666   PMID:29298432   PMID:29395067  
PMID:29467282   PMID:29509190   PMID:29511261   PMID:29802200   PMID:29845934   PMID:30144193   PMID:30209976   PMID:30217970   PMID:30463901   PMID:30804502   PMID:30833792   PMID:30884312  
PMID:30940648   PMID:30948266   PMID:30963592   PMID:31091453   PMID:31300519   PMID:31324722   PMID:31365120   PMID:31443275   PMID:31484648   PMID:31586073   PMID:31665637   PMID:31753913  
PMID:31980649   PMID:32098966   PMID:32149426   PMID:32296183   PMID:32307695   PMID:32416067   PMID:32513696   PMID:32640226   PMID:32703943   PMID:32707033   PMID:32807901   PMID:32814053  
PMID:32868804   PMID:32877691   PMID:32971831   PMID:32994395   PMID:33194618   PMID:33239621   PMID:33373584   PMID:33536335   PMID:33585199   PMID:33626862   PMID:33650667   PMID:33658012  
PMID:33711218   PMID:33742100   PMID:33836623   PMID:33929502   PMID:33961781   PMID:34079125   PMID:34189442   PMID:34244482   PMID:34373451   PMID:34597346   PMID:34644397   PMID:34671111  
PMID:34723452   PMID:34831298   PMID:34916496   PMID:35013218   PMID:35227662   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35583604   PMID:35613581   PMID:35652658  
PMID:35671390   PMID:35777956   PMID:35781188   PMID:35803934   PMID:35819319   PMID:35918249   PMID:35944360   PMID:36036093   PMID:36089195   PMID:36114006   PMID:36215168   PMID:36244648  
PMID:36273042   PMID:36322930   PMID:36373674   PMID:36424410   PMID:36455200   PMID:36526897   PMID:36574265   PMID:36736316   PMID:36779763   PMID:36780110   PMID:36912080   PMID:36931259  
PMID:37199125   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37406166   PMID:37506341   PMID:37616343   PMID:37689310   PMID:37705260   PMID:37827155   PMID:37874914   PMID:38113892  
PMID:38282418   PMID:38492200   PMID:38697112  


Genomics

Comparative Map Data
DDX41
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385177,511,577 - 177,516,961 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5177,511,577 - 177,516,961 (-)EnsemblGRCh38hg38GRCh38
GRCh375176,938,578 - 176,943,962 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,871,184 - 176,876,573 (-)NCBINCBI36Build 36hg18NCBI36
Build 345176,871,184 - 176,876,573NCBI
Celera5171,557,772 - 171,563,161 (+)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,859,096 - 171,864,485 (-)NCBIHuRef
CHM1_15176,371,520 - 176,376,909 (-)NCBICHM1_1
T2T-CHM13v2.05178,054,559 - 178,059,943 (-)NCBIT2T-CHM13v2.0
Ddx41
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391355,678,223 - 55,684,471 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1355,678,223 - 55,684,471 (-)EnsemblGRCm39 Ensembl
GRCm381355,530,410 - 55,536,658 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1355,530,410 - 55,536,658 (-)EnsemblGRCm38mm10GRCm38
MGSCv371355,631,771 - 55,638,019 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361355,540,040 - 55,546,134 (-)NCBIMGSCv36mm8
Celera1356,584,535 - 56,590,780 (-)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1330.06NCBI
Ddx41
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8179,108,030 - 9,113,562 (+)NCBIGRCr8
mRatBN7.2179,102,926 - 9,108,415 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,103,010 - 9,108,415 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx179,119,303 - 9,124,695 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01710,649,120 - 10,654,512 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0179,115,693 - 9,121,085 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0179,631,925 - 9,637,317 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl179,631,925 - 9,637,316 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01711,740,661 - 11,746,053 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41715,147,008 - 15,152,401 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11715,144,606 - 15,152,401 (+)NCBI
Celera179,181,615 - 9,187,007 (+)NCBICelera
Cytogenetic Map17p14NCBI
Ddx41
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540829,744,751 - 29,754,497 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540829,748,091 - 29,753,610 (-)NCBIChiLan1.0ChiLan1.0
DDX41
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24172,595,364 - 172,601,110 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15170,734,905 - 170,742,767 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05172,812,755 - 172,818,217 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15179,874,281 - 179,880,685 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5179,873,626 - 179,884,402 (-)Ensemblpanpan1.1panPan2
DDX41
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1435,854,382 - 35,859,853 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl435,854,597 - 35,859,852 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha435,822,207 - 35,827,672 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0436,220,952 - 36,226,421 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl436,220,879 - 36,226,421 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1436,046,538 - 36,052,003 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0436,232,325 - 36,237,790 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0436,741,670 - 36,747,140 (+)NCBIUU_Cfam_GSD_1.0
Ddx41
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213122,762,929 - 122,768,503 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365971,787,537 - 1,793,866 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365971,787,830 - 1,793,352 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DDX41
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl280,433,190 - 80,438,867 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1280,433,065 - 80,445,484 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DDX41
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12379,522,265 - 79,528,628 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2379,522,479 - 79,527,570 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607510,714,692 - 10,721,026 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ddx41
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473312,570,402 - 12,578,019 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473312,571,208 - 12,576,721 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DDX41
508 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016222.4(DDX41):c.572-1G>A single nucleotide variant not provided [RCV000522122] Chr5:177515259 [GRCh38]
Chr5:176942260 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 copy number loss See cases [RCV000050645] Chr5:176132340..177586960 [GRCh38]
Chr5:175559343..177013961 [GRCh37]
Chr5:175491949..176946567 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 copy number gain See cases [RCV000051867] Chr5:175851047..178365049 [GRCh38]
Chr5:175278050..177792050 [GRCh37]
Chr5:175210656..177724656 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 copy number loss See cases [RCV000053127] Chr5:176043476..177995759 [GRCh38]
Chr5:175470479..177422760 [GRCh37]
Chr5:175403085..177355366 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 copy number loss See cases [RCV000053128] Chr5:176115257..177646633 [GRCh38]
Chr5:175542260..177073634 [GRCh37]
Chr5:175474866..177006240 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 copy number loss See cases [RCV000053129] Chr5:176152073..177986213 [GRCh38]
Chr5:175579076..177413214 [GRCh37]
Chr5:175511682..177345820 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 copy number loss See cases [RCV000053131] Chr5:176152073..177646633 [GRCh38]
Chr5:175579076..177073634 [GRCh37]
Chr5:175511682..177006240 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 copy number gain See cases [RCV000053481] Chr5:176149599..177716401 [GRCh38]
Chr5:175576602..177143402 [GRCh37]
Chr5:175509208..177076008 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic|uncertain significance
NM_016222.2(DDX41):c.1088C>A (p.Ser363Tyr) single nucleotide variant Malignant melanoma [RCV000066867] Chr5:177513695 [GRCh38]
Chr5:176940696 [GRCh37]
Chr5:176873302 [NCBI36]
Chr5:5q35.3		 not provided
NM_016222.4(DDX41):c.936-242G>A single nucleotide variant not provided [RCV001572103] Chr5:177514089 [GRCh38]
Chr5:176941090 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3 copy number gain See cases [RCV000138817] Chr5:177261458..177651722 [GRCh38]
Chr5:176688459..177078723 [GRCh37]
Chr5:176621065..177011329 [NCBI36]
Chr5:5q35.3		 likely benign|uncertain significance
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 copy number loss See cases [RCV000142365] Chr5:175989092..178009412 [GRCh38]
Chr5:175416095..177436413 [GRCh37]
Chr5:175348701..177369019 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 copy number loss See cases [RCV000142510] Chr5:176132340..177995759 [GRCh38]
Chr5:175559343..177422760 [GRCh37]
Chr5:175491949..177355366 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 copy number loss See cases [RCV000142047] Chr5:176291838..178662699 [GRCh38]
Chr5:175718841..178089700 [GRCh37]
Chr5:175651447..178022306 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 copy number loss See cases [RCV000142538] Chr5:176517339..177709289 [GRCh38]
Chr5:175944340..177136290 [GRCh37]
Chr5:175876946..177068896 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 copy number loss See cases [RCV000143463] Chr5:176143674..178009412 [GRCh38]
Chr5:175570677..177436413 [GRCh37]
Chr5:175503283..177369019 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.1293A>C (p.Thr431=) single nucleotide variant not specified [RCV000192583] Chr5:177513020 [GRCh38]
Chr5:176940021 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) duplication Acute myeloid leukemia [RCV000193600]|DDX41-related disorder [RCV004751355]|DDX41-related hematologic malignancy predisposition syndrome [RCV000210272]|not provided [RCV001008139] Chr5:177515944..177515945 [GRCh38]
Chr5:176942945..176942946 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|risk factor
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV000210264]|not provided [RCV001818508] Chr5:177515766 [GRCh38]
Chr5:176942767 [GRCh37]
Chr5:5q35.3		 likely pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance
NM_016222.2(DDX41):c.415_419dupGATG duplication MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO [RCV000210272] Chr5:5q35.3 risk factor
NM_016222.4(DDX41):c.435-2_435-1delinsCA indel DDX41-related hematologic malignancy predisposition syndrome [RCV000210273]|not provided [RCV001815218] Chr5:177515822..177515823 [GRCh38]
Chr5:176942823..176942824 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|risk factor
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) single nucleotide variant Bone marrow hypocellularity [RCV001256169]|DDX41-related disorder [RCV003907781]|DDX41-related hematologic malignancy predisposition syndrome [RCV000210251]|Myelodysplasia [RCV001256171]|not provided [RCV000519179] Chr5:177516943 [GRCh38]
Chr5:176943944 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|risk factor|uncertain significance
NM_016222.4(DDX41):c.1187T>C (p.Ile396Thr) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV000210262]|not provided [RCV001553497] Chr5:177513396 [GRCh38]
Chr5:176940397 [GRCh37]
Chr5:5q35.3		 likely pathogenic|risk factor
NM_016222.4(DDX41):c.1574G>A (p.Arg525His) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV000210250]|not provided [RCV002288840] Chr5:177512369 [GRCh38]
Chr5:176939370 [GRCh37]
Chr5:5q35.3		 pathogenic|risk factor|uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_016222.4(DDX41):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV002285999] Chr5:177516945 [GRCh38]
Chr5:176943946 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter) single nucleotide variant DDX41-related disorder [RCV003424157]|DDX41-related hematologic malignancy predisposition syndrome [RCV001764696]|not provided [RCV000579037] Chr5:177516742 [GRCh38]
Chr5:176943743 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|not provided
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 copy number gain See cases [RCV000445774] Chr5:175722788..177423091 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1 copy number loss See cases [RCV000445817] Chr5:176505173..178230923 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_016222.4(DDX41):c.91G>A (p.Glu31Lys) single nucleotide variant not provided [RCV000482372] Chr5:177516772 [GRCh38]
Chr5:176943773 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_016222.4(DDX41):c.1016G>A (p.Arg339His) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004568632]|not provided [RCV002264947]|not specified [RCV000501123] Chr5:177513767 [GRCh38]
Chr5:176940768 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.1233G>A (p.Glu411=) single nucleotide variant not provided [RCV001558404]|not specified [RCV000503645] Chr5:177513080 [GRCh38]
Chr5:176940081 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs) insertion DDX41-related hematologic malignancy predisposition syndrome [RCV000503753]|not provided [RCV003565425] Chr5:177516353..177516354 [GRCh38]
Chr5:176943354..176943355 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_016222.4(DDX41):c.1665C>T (p.Ala555=) single nucleotide variant not provided [RCV003660808]|not specified [RCV000501533] Chr5:177512163 [GRCh38]
Chr5:176939164 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.*74C>T single nucleotide variant not provided [RCV001662492]|not specified [RCV000503769] Chr5:177511717 [GRCh38]
Chr5:176938718 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.1683C>T (p.Pro561=) single nucleotide variant not provided [RCV002527235]|not specified [RCV000499384] Chr5:177512145 [GRCh38]
Chr5:176939146 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1016G>T (p.Arg339Leu) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV000504169] Chr5:177513767 [GRCh38]
Chr5:176940768 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.1105C>G (p.Arg369Gly) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003470627]|not provided [RCV001770380]|not specified [RCV000502075] Chr5:177513478 [GRCh38]
Chr5:176940479 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.27+9G>A single nucleotide variant not provided [RCV003718247]|not specified [RCV000502282] Chr5:177516910 [GRCh38]
Chr5:176943911 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.323del (p.Lys108fs) deletion DDX41-related hematologic malignancy predisposition syndrome [RCV000502578] Chr5:177516169 [GRCh38]
Chr5:176943170 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.139-4T>G single nucleotide variant DDX41-related disorder [RCV003979888]|Inborn genetic diseases [RCV004609412]|not provided [RCV002527236]|not specified [RCV000500186] Chr5:177516451 [GRCh38]
Chr5:176943452 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.1142dup (p.Ile382fs) duplication DDX41-related hematologic malignancy predisposition syndrome [RCV000500690] Chr5:177513440..177513441 [GRCh38]
Chr5:176940441..176940442 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.138+5G>T single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV002254700]|not provided [RCV001731724]|not specified [RCV000500915] Chr5:177516720 [GRCh38]
Chr5:176943721 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 copy number loss See cases [RCV000511974] Chr5:175438045..177392885 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain See cases [RCV000511393] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.3(DDX41):c.418_419insGATG (p.Asp140Glyfs) insertion Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to [RCV000496036] Chr5:177515944..177515945 [GRCh38]
Chr5:176942945..176942946 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.571+3A>G single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466055]|not provided [RCV003318213] Chr5:177515682 [GRCh38]
Chr5:176942683 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1273_1276dup (p.Glu426fs) duplication not provided [RCV000627551] Chr5:177513036..177513037 [GRCh38]
Chr5:176940037..176940038 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 copy number loss See cases [RCV000512405] Chr5:175570678..177437340 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
Single allele duplication not provided [RCV000677989] Chr5:176798338..177423150 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 copy number loss not provided [RCV000682614] Chr5:175438045..177481250 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 copy number loss not provided [RCV000682615] Chr5:175570677..177436413 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1 copy number loss not provided [RCV000682619] Chr5:176918345..179061393 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1 copy number loss not provided [RCV000682618] Chr5:176044976..177023859 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.649T>C (p.Ser217Pro) single nucleotide variant DDX41-related disorder [RCV003405712]|DDX41-related hematologic malignancy predisposition syndrome [RCV003470861]|not provided [RCV001548314] Chr5:177515065 [GRCh38]
Chr5:176942066 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1 copy number loss not provided [RCV000745338] Chr5:175346223..177423236 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 copy number loss not provided [RCV000745339] Chr5:175433876..177441189 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.936-210G>A single nucleotide variant not provided [RCV001709451] Chr5:177514057 [GRCh38]
Chr5:176941058 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1479C>T (p.Ser493=) single nucleotide variant DDX41-related disorder [RCV003912869]|not provided [RCV000901231]|not specified [RCV001818750] Chr5:177512566 [GRCh38]
Chr5:176939567 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.27+2_27+5dup duplication DDX41-related disorder [RCV003926223]|not provided [RCV000963859]|not specified [RCV001356722] Chr5:177516913..177516914 [GRCh38]
Chr5:176943914..176943915 [GRCh37]
Chr5:5q35.3		 benign
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876) copy number gain not provided [RCV000767712] Chr5:176305543..177422876 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.597A>G (p.Lys199=) single nucleotide variant not provided [RCV000916174] Chr5:177515233 [GRCh38]
Chr5:176942234 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4 copy number gain not provided [RCV000848335] Chr5:176774402..177064884 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3 copy number gain not provided [RCV000846590] Chr5:176643613..179085551 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3 copy number gain not provided [RCV000847220] Chr5:176848982..180719789 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003467511]|not provided [RCV000822333]|not specified [RCV002249532] Chr5:177516128 [GRCh38]
Chr5:176943129 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|uncertain significance
Single allele deletion Marfanoid habitus and intellectual disability [RCV000851176] Chr5:175875407..177036017 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
NM_016222.4(DDX41):c.1004dup (p.Asp336fs) duplication not provided [RCV001008395] Chr5:177513778..177513779 [GRCh38]
Chr5:176940779..176940780 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1 copy number loss not provided [RCV000845642] Chr5:176732536..177260046 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain not provided [RCV000846148] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.811C>T (p.Arg271Trp) single nucleotide variant not provided [RCV003318299] Chr5:177514825 [GRCh38]
Chr5:176941826 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.764G>A (p.Arg255His) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004572889]|not provided [RCV003233208] Chr5:177514950 [GRCh38]
Chr5:176941951 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.946_947del (p.Met316fs) deletion DDX41-related disorder [RCV004752016]|DDX41-related hematologic malignancy predisposition syndrome [RCV003224812]|not provided [RCV001565772] Chr5:177513836..177513837 [GRCh38]
Chr5:176940837..176940838 [GRCh37]
Chr5:5q35.3		 pathogenic
NC_000005.9:g.(?_176289625)_(177151363_?)del deletion Sotos syndrome [RCV003232856]|not provided [RCV003113198] Chr5:176289625..177151363 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic|no classifications from unflagged records
NM_016222.4(DDX41):c.935+320C>T single nucleotide variant not provided [RCV001677367] Chr5:177514381 [GRCh38]
Chr5:176941382 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.27+16G>C single nucleotide variant not provided [RCV001687151] Chr5:177516903 [GRCh38]
Chr5:176943904 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.936-70G>A single nucleotide variant not provided [RCV001562494] Chr5:177513917 [GRCh38]
Chr5:176940918 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.799-36G>A single nucleotide variant not provided [RCV001570977] Chr5:177514873 [GRCh38]
Chr5:176941874 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.935+181G>A single nucleotide variant not provided [RCV001571004] Chr5:177514520 [GRCh38]
Chr5:176941521 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.572-130CT[8] microsatellite not provided [RCV001684154] Chr5:177515371..177515372 [GRCh38]
Chr5:176942372..176942373 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1400-42G>A single nucleotide variant not provided [RCV001715450] Chr5:177512687 [GRCh38]
Chr5:176939688 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1550-24G>C single nucleotide variant not provided [RCV001732371] Chr5:177512417 [GRCh38]
Chr5:176939418 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1621+36T>G single nucleotide variant not provided [RCV001545899] Chr5:177512286 [GRCh38]
Chr5:176939287 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.937G>A (p.Gly313Ser) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004572888]|not provided [RCV003231772] Chr5:177513846 [GRCh38]
Chr5:176940847 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.*3C>T single nucleotide variant DDX41-related disorder [RCV003931186]|not provided [RCV001559753]|not specified [RCV001821887] Chr5:177511788 [GRCh38]
Chr5:176938789 [GRCh37]
Chr5:5q35.3		 benign|likely benign
GRCh37/hg19 5q35.3(chr5:176718361-176957659)x3 copy number gain not provided [RCV002472682] Chr5:176718361..176957659 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_016222.4(DDX41):c.935+275T>C single nucleotide variant not provided [RCV001620150] Chr5:177514426 [GRCh38]
Chr5:176941427 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1200C>T (p.Arg400=) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV001803385]|not provided [RCV001688139] Chr5:177513383 [GRCh38]
Chr5:176940384 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.465G>A (p.Met155Ile) single nucleotide variant DDX41-related disorder [RCV004752033]|DDX41-related hematologic malignancy predisposition syndrome [RCV002477874]|not provided [RCV001658800]|not specified [RCV001821945] Chr5:177515791 [GRCh38]
Chr5:176942792 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV001682625]|not provided [RCV002254968]|not specified [RCV001821952] Chr5:177516940 [GRCh38]
Chr5:176943941 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.572-42del deletion not provided [RCV001587125] Chr5:177515300 [GRCh38]
Chr5:176942301 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1399+46T>C single nucleotide variant not provided [RCV001710575] Chr5:177512734 [GRCh38]
Chr5:176939735 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter) single nucleotide variant DDX41-related disorder [RCV003394152]|DDX41-related hematologic malignancy predisposition syndrome [RCV003224813]|not provided [RCV001583239] Chr5:177513442 [GRCh38]
Chr5:176940443 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) single nucleotide variant DDX41-related disorder [RCV003956282]|DDX41-related hematologic malignancy predisposition syndrome [RCV003224814]|not provided [RCV001589919]|not specified [RCV001821922] Chr5:177515061 [GRCh38]
Chr5:176942062 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.*97C>T single nucleotide variant not provided [RCV001572123] Chr5:177511694 [GRCh38]
Chr5:176938695 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.155dup (p.Arg53fs) duplication Myelodysplasia [RCV001256167]|not provided [RCV003222279] Chr5:177516430..177516431 [GRCh38]
Chr5:176943431..176943432 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) microsatellite Acute myeloid leukemia [RCV001256170]|DDX41-related disorder [RCV003393927]|DDX41-related hematologic malignancy predisposition syndrome [RCV003224810]|not provided [RCV002462887] Chr5:177512356..177512357 [GRCh38]
Chr5:176939357..176939358 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_016222.4(DDX41):c.370C>T (p.Arg124Ter) single nucleotide variant Myelodysplasia [RCV001256172] Chr5:177516122 [GRCh38]
Chr5:176943123 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) single nucleotide variant Acute myeloid leukemia [RCV001256176]|DDX41-related hematologic malignancy predisposition syndrome [RCV004570648]|not provided [RCV001819963] Chr5:177516444 [GRCh38]
Chr5:176943445 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 copy number loss Sotos syndrome [RCV003232270] Chr5:175346695..177469711 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.1668G>T (p.Lys556Asn) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV001255164]|not provided [RCV002570584] Chr5:177512160 [GRCh38]
Chr5:176939161 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3 copy number gain not provided [RCV001258712] Chr5:175570677..177114151 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.1436G>A (p.Arg479Gln) single nucleotide variant Bone marrow hypocellularity [RCV001256175]|DDX41-related disorder [RCV003416132]|DDX41-related hematologic malignancy predisposition syndrome [RCV003469486]|not provided [RCV001751523] Chr5:177512609 [GRCh38]
Chr5:176939610 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) single nucleotide variant Bone marrow hypocellularity [RCV001256173]|DDX41-related hematologic malignancy predisposition syndrome [RCV001760302]|not provided [RCV002222688] Chr5:177515739 [GRCh38]
Chr5:176942740 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|uncertain significance|not provided
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3 copy number gain not provided [RCV001258713] Chr5:175394616..177436413 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs) indel Acute myeloid leukemia [RCV001256168] Chr5:177514995 [GRCh38]
Chr5:176941996 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.253G>T (p.Val85Phe) single nucleotide variant Aplastic anemia [RCV001256174] Chr5:177516333 [GRCh38]
Chr5:176943334 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1732+46A>G single nucleotide variant not provided [RCV001643295] Chr5:177512050 [GRCh38]
Chr5:176939051 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.882C>T (p.Cys294=) single nucleotide variant not provided [RCV001664973] Chr5:177514754 [GRCh38]
Chr5:176941755 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.1098+2T>G single nucleotide variant not provided [RCV001376969] Chr5:177513683 [GRCh38]
Chr5:176940684 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.916C>T (p.Gln306Ter) single nucleotide variant not provided [RCV001391006] Chr5:177514720 [GRCh38]
Chr5:176941721 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.305_306del (p.Lys102fs) deletion DDX41-related hematologic malignancy predisposition syndrome [RCV002504637]|not provided [RCV001380955] Chr5:177516186..177516187 [GRCh38]
Chr5:176943187..176943188 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_016222.4(DDX41):c.1354C>T (p.Leu452=) single nucleotide variant DDX41-related disorder [RCV003908888]|not provided [RCV001536201]|not specified [RCV001821857] Chr5:177512825 [GRCh38]
Chr5:176939826 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.1230+80G>A single nucleotide variant not provided [RCV001689489] Chr5:177513273 [GRCh38]
Chr5:176940274 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1622-20C>G single nucleotide variant not provided [RCV001652120] Chr5:177512226 [GRCh38]
Chr5:176939227 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.936-23C>G single nucleotide variant not provided [RCV001685287] Chr5:177513870 [GRCh38]
Chr5:176940871 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.138+53G>A single nucleotide variant not provided [RCV001674974] Chr5:177516672 [GRCh38]
Chr5:176943673 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1334_1336del (p.Val445del) deletion not provided [RCV001755107] Chr5:177512843..177512845 [GRCh38]
Chr5:176939844..176939846 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3 copy number gain not provided [RCV001832980] Chr5:176497464..177776599 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic|likely pathogenic
NM_016222.4(DDX41):c.62_63del (p.Ser21fs) deletion DDX41-related hematologic malignancy predisposition syndrome [RCV001761404] Chr5:177516800..177516801 [GRCh38]
Chr5:176943801..176943802 [GRCh37]
Chr5:5q35.3		 pathogenic|not provided
NM_016222.4(DDX41):c.32C>T (p.Ala11Val) single nucleotide variant not provided [RCV003126989] Chr5:177516831 [GRCh38]
Chr5:176943832 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.19G>T (p.Glu7Ter) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV001761403] Chr5:177516927 [GRCh38]
Chr5:176943928 [GRCh37]
Chr5:5q35.3		 pathogenic|not provided
NM_016222.4(DDX41):c.776A>G (p.Tyr259Cys) single nucleotide variant DDX41-related disorder [RCV003394244]|DDX41-related hematologic malignancy predisposition syndrome [RCV001761406] Chr5:177514938 [GRCh38]
Chr5:176941939 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance|not provided
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
NM_016222.4(DDX41):c.38C>T (p.Thr13Ile) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003470888]|not provided [RCV001769396]|not specified [RCV001821994] Chr5:177516825 [GRCh38]
Chr5:176943826 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.1496dup (p.Ala500fs) duplication DDX41-related hematologic malignancy predisposition syndrome [RCV001761407]|not provided [RCV001821989] Chr5:177512548..177512549 [GRCh38]
Chr5:176939549..176939550 [GRCh37]
Chr5:5q35.3		 pathogenic|not provided
NM_016222.4(DDX41):c.7G>A (p.Glu3Lys) single nucleotide variant not provided [RCV001752299] Chr5:177516939 [GRCh38]
Chr5:176943940 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.449G>A (p.Arg150His) single nucleotide variant not provided [RCV001764043] Chr5:177515807 [GRCh38]
Chr5:176942808 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.475C>T (p.Arg159Ter) single nucleotide variant DDX41-related disorder [RCV004752052]|DDX41-related hematologic malignancy predisposition syndrome [RCV003464144]|not provided [RCV001794717] Chr5:177515781 [GRCh38]
Chr5:176942782 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003470918]|Inherited acute myeloid leukemia [RCV003313232]|not provided [RCV001794600] Chr5:177514705 [GRCh38]
Chr5:176941706 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NM_016222.4(DDX41):c.491G>A (p.Arg164Gln) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004571078]|not provided [RCV001769158] Chr5:177515765 [GRCh38]
Chr5:176942766 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.103C>G (p.Pro35Ala) single nucleotide variant not provided [RCV001769164] Chr5:177516760 [GRCh38]
Chr5:176943761 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1301C>T (p.Pro434Leu) single nucleotide variant not provided [RCV001769361] Chr5:177513012 [GRCh38]
Chr5:176940013 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.455T>G (p.Val152Gly) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV001761405] Chr5:177515801 [GRCh38]
Chr5:176942802 [GRCh37]
Chr5:5q35.3		 pathogenic|not provided
NM_016222.4(DDX41):c.1075C>T (p.Arg359Cys) single nucleotide variant not provided [RCV001760714] Chr5:177513708 [GRCh38]
Chr5:176940709 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1471G>A (p.Val491Ile) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004571077]|not provided [RCV001769135] Chr5:177512574 [GRCh38]
Chr5:176939575 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.617C>T (p.Pro206Leu) single nucleotide variant not provided [RCV001774581] Chr5:177515213 [GRCh38]
Chr5:176942214 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.560A>G (p.Lys187Arg) single nucleotide variant not provided [RCV001763661]|not specified [RCV001821991] Chr5:177515696 [GRCh38]
Chr5:176942697 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1283T>C (p.Leu428Pro) single nucleotide variant not provided [RCV002542539]|not specified [RCV001817527] Chr5:177513030 [GRCh38]
Chr5:176940031 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.198C>A (p.Ser66Arg) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003464150]|not specified [RCV001817570] Chr5:177516388 [GRCh38]
Chr5:176943389 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.643A>C (p.Ile215Leu) single nucleotide variant DDX41-related disorder [RCV003892180]|DDX41-related hematologic malignancy predisposition syndrome [RCV003470919]|not provided [RCV001794706] Chr5:177515187 [GRCh38]
Chr5:176942188 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.566C>T (p.Pro189Leu) single nucleotide variant not provided [RCV003772284]|not specified [RCV001817250] Chr5:177515690 [GRCh38]
Chr5:176942691 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1299G>A (p.Pro433=) single nucleotide variant DDX41-related disorder [RCV003956393]|not provided [RCV002541982]|not specified [RCV001817261] Chr5:177513014 [GRCh38]
Chr5:176940015 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.511G>C (p.Val171Leu) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003464149]|not provided [RCV002463042]|not specified [RCV001817302] Chr5:177515745 [GRCh38]
Chr5:176942746 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.644T>C (p.Ile215Thr) single nucleotide variant not provided [RCV001779711] Chr5:177515186 [GRCh38]
Chr5:176942187 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.571G>A (p.Ala191Thr) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV001802385]|not provided [RCV002222729] Chr5:177515685 [GRCh38]
Chr5:176942686 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_016222.4(DDX41):c.773C>T (p.Pro258Leu) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003464151]|not provided [RCV001817854] Chr5:177514941 [GRCh38]
Chr5:176941942 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.986del (p.Gln329fs) deletion DDX41-related hematologic malignancy predisposition syndrome [RCV003224818]|not provided [RCV001817876] Chr5:177513797 [GRCh38]
Chr5:176940798 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.1108C>T (p.Gln370Ter) single nucleotide variant not provided [RCV001817919] Chr5:177513475 [GRCh38]
Chr5:176940476 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.959C>T (p.Thr320Ile) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224819]|not specified [RCV001817963] Chr5:177513824 [GRCh38]
Chr5:176940825 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1650G>A (p.Ala550=) single nucleotide variant not provided [RCV003728024]|not specified [RCV001819526] Chr5:177512178 [GRCh38]
Chr5:176939179 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.690C>G (p.Gly230=) single nucleotide variant DDX41-related disorder [RCV003913404]|not provided [RCV003772303]|not specified [RCV001819568] Chr5:177515024 [GRCh38]
Chr5:176942025 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.88G>T (p.Asp30Tyr) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004571114]|not provided [RCV002463044]|not specified [RCV001819622] Chr5:177516775 [GRCh38]
Chr5:176943776 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.877C>T (p.Arg293Cys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003470928]|not provided [RCV002542042]|not specified [RCV001820325] Chr5:177514759 [GRCh38]
Chr5:176941760 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1332C>T (p.Asp444=) single nucleotide variant not provided [RCV003772316]|not specified [RCV001820438] Chr5:177512847 [GRCh38]
Chr5:176939848 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.1033G>A (p.Glu345Lys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224815]|not specified [RCV001820469] Chr5:177513750 [GRCh38]
Chr5:176940751 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.157C>G (p.Arg53Gly) single nucleotide variant not specified [RCV001820524] Chr5:177516429 [GRCh38]
Chr5:176943430 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1827C>T (p.Ile609=) single nucleotide variant not provided [RCV003546724]|not specified [RCV001820700] Chr5:177511833 [GRCh38]
Chr5:176938834 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1079C>T (p.Thr360Ile) single nucleotide variant not specified [RCV001820738] Chr5:177513704 [GRCh38]
Chr5:176940705 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1622-5C>G single nucleotide variant not provided [RCV002541955]|not specified [RCV001822201] Chr5:177512211 [GRCh38]
Chr5:176939212 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.138+5G>A single nucleotide variant DDX41-related disorder [RCV003968573]|DDX41-related hematologic malignancy predisposition syndrome [RCV002291769]|Inborn genetic diseases [RCV004611882]|not provided [RCV002509703]|not specified [RCV001817337] Chr5:177516720 [GRCh38]
Chr5:176943721 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.1622-3C>T single nucleotide variant DDX41-related disorder [RCV003948751]|not provided [RCV002542650]|not specified [RCV001822414] Chr5:177512209 [GRCh38]
Chr5:176939210 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.5A>C (p.Glu2Ala) single nucleotide variant not specified [RCV001822419] Chr5:177516941 [GRCh38]
Chr5:176943942 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.*181C>G single nucleotide variant not specified [RCV001817569] Chr5:177511610 [GRCh38]
Chr5:176938611 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.51T>G (p.Pro17=) single nucleotide variant not provided [RCV002542657]|not specified [RCV001822513] Chr5:177516812 [GRCh38]
Chr5:176943813 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.434+1G>C single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224817]|not provided [RCV001817863] Chr5:177515928 [GRCh38]
Chr5:176942929 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_016222.4(DDX41):c.1474dup (p.Ala492fs) duplication not provided [RCV001817864] Chr5:177512570..177512571 [GRCh38]
Chr5:176939571..176939572 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.1394del (p.Gly465fs) deletion not provided [RCV001817880] Chr5:177512785 [GRCh38]
Chr5:176939786 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.1721del (p.Leu574fs) deletion not provided [RCV001817943] Chr5:177512107 [GRCh38]
Chr5:176939108 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.*194A>G single nucleotide variant not specified [RCV001819409] Chr5:177511597 [GRCh38]
Chr5:176938598 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.926C>T (p.Thr309Ile) single nucleotide variant not specified [RCV001819456] Chr5:177514710 [GRCh38]
Chr5:176941711 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1013G>A (p.Cys338Tyr) single nucleotide variant DDX41-related disorder [RCV003401736]|not specified [RCV001819524] Chr5:177513770 [GRCh38]
Chr5:176940771 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1458A>G (p.Leu486=) single nucleotide variant not specified [RCV001819613] Chr5:177512587 [GRCh38]
Chr5:176939588 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1470C>T (p.Asp490=) single nucleotide variant DDX41-related disorder [RCV003941158]|not provided [RCV002542596]|not specified [RCV001820243] Chr5:177512575 [GRCh38]
Chr5:176939576 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.741G>A (p.Glu247=) single nucleotide variant DDX41-related disorder [RCV003911034]|not provided [RCV002542620]|not specified [RCV001820404] Chr5:177514973 [GRCh38]
Chr5:176941974 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.*63T>C single nucleotide variant not specified [RCV001820443] Chr5:177511728 [GRCh38]
Chr5:176938729 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.936-7T>G single nucleotide variant not specified [RCV001822368] Chr5:177513854 [GRCh38]
Chr5:176940855 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.645-10C>T single nucleotide variant DDX41-related disorder [RCV003948750]|not specified [RCV001822411] Chr5:177515079 [GRCh38]
Chr5:176942080 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.301C>T (p.Arg101Cys) single nucleotide variant not specified [RCV001822428] Chr5:177516191 [GRCh38]
Chr5:176943192 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1547A>G (p.Tyr516Cys) single nucleotide variant DDX41-related disorder [RCV003401737]|DDX41-related hematologic malignancy predisposition syndrome [RCV003224816]|not provided [RCV003728032]|not specified [RCV001822438] Chr5:177512498 [GRCh38]
Chr5:176939499 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1399+10G>A single nucleotide variant not provided [RCV002545171]|not specified [RCV001822471] Chr5:177512770 [GRCh38]
Chr5:176939771 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.681G>C (p.Thr227=) single nucleotide variant not specified [RCV001822616] Chr5:177515033 [GRCh38]
Chr5:176942034 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.97T>C (p.Tyr33His) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003325235]|not provided [RCV002542667]|not specified [RCV001822617] Chr5:177516766 [GRCh38]
Chr5:176943767 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.766G>A (p.Glu256Lys) single nucleotide variant DDX41-related disorder [RCV004731184]|not provided [RCV004591586]|not specified [RCV001822651] Chr5:177514948 [GRCh38]
Chr5:176941949 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_016222.4(DDX41):c.291G>A (p.Lys97=) single nucleotide variant DDX41-related disorder [RCV003948754]|not provided [RCV002542690]|not specified [RCV001822788] Chr5:177516295 [GRCh38]
Chr5:176943296 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.299-3C>T single nucleotide variant not provided [RCV002542695]|not specified [RCV001822807] Chr5:177516196 [GRCh38]
Chr5:176943197 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1285C>T (p.Gln429Ter) single nucleotide variant not provided [RCV001822830] Chr5:177513028 [GRCh38]
Chr5:176940029 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.740A>G (p.Glu247Gly) single nucleotide variant not provided [RCV001810386] Chr5:177514974 [GRCh38]
Chr5:176941975 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.268C>T (p.Gln90Ter) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003471290]|Inborn genetic diseases [RCV002551236]|not provided [RCV002052330] Chr5:177516318 [GRCh38]
Chr5:176943319 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NC_000005.9:g.(?_176047812)_(177422934_?)del deletion Ehlers-Danlos syndrome progeroid type [RCV001931790] Chr5:176047812..177422934 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NC_000005.9:g.(?_176047812)_(177422934_?)dup duplication Ehlers-Danlos syndrome progeroid type [RCV001883344]|not provided [RCV001879660] Chr5:176047812..177422934 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NC_000005.9:g.(?_175158654)_(179263593_?)dup duplication Ehlers-Danlos syndrome, dermatosparaxis type [RCV003116717]|Sotos syndrome [RCV003232857]|not provided [RCV003154288] Chr5:175158654..179263593 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance|no classifications from unflagged records
NC_000005.9:g.(?_176618865)_(177036696_?)dup duplication Sotos syndrome [RCV003232859] Chr5:176618865..177036696 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.572-3T>C single nucleotide variant not provided [RCV003121073] Chr5:177515261 [GRCh38]
Chr5:176942262 [GRCh37]
Chr5:5q35.3		 uncertain significance
NC_000005.9:g.(?_176935330)_(176942071_?)del deletion not provided [RCV003119723] Chr5:176935330..176942071 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.43G>A (p.Glu15Lys) single nucleotide variant not provided [RCV003327758] Chr5:177516820 [GRCh38]
Chr5:176943821 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.673G>A (p.Ala225Thr) single nucleotide variant Inborn genetic diseases [RCV003242715] Chr5:177515041 [GRCh38]
Chr5:176942042 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1354del (p.Leu452fs) deletion DDX41-related hematologic malignancy predisposition syndrome [RCV004572860]|not provided [RCV003151500] Chr5:177512825 [GRCh38]
Chr5:176939826 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.1739G>A (p.Arg580His) single nucleotide variant not provided [RCV003149185] Chr5:177511921 [GRCh38]
Chr5:176938922 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1621+5G>T single nucleotide variant Myelodysplastic syndrome [RCV002272707] Chr5:177512317 [GRCh38]
Chr5:176939318 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.1828G>A (p.Gly610Ser) single nucleotide variant not provided [RCV003156577] Chr5:177511832 [GRCh38]
Chr5:176938833 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1105C>T (p.Arg369Ter) single nucleotide variant not provided [RCV002260867] Chr5:177513478 [GRCh38]
Chr5:176940479 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_016222.4(DDX41):c.1308C>T (p.Leu436=) single nucleotide variant DDX41-related disorder [RCV004750719]|not provided [RCV002269750] Chr5:177512871 [GRCh38]
Chr5:176939872 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 copy number gain See cases [RCV002292398] Chr5:170350336..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_016222.4(DDX41):c.920T>C (p.Met307Thr) single nucleotide variant not provided [RCV003778904]|not specified [RCV003151502] Chr5:177514716 [GRCh38]
Chr5:176941717 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3 copy number gain not provided [RCV002474595] Chr5:176516440..177773252 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.3(chr5:176616151-177107778)x3 copy number gain not provided [RCV002472763] Chr5:176616151..177107778 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3 copy number gain not provided [RCV002472528] Chr5:176547912..177126647 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
NM_016222.4(DDX41):c.1302+6_1302+40del deletion not provided [RCV003156491] Chr5:177512971..177513005 [GRCh38]
Chr5:176939972..176940006 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.107A>G (p.Tyr36Cys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004571171]|not provided [RCV002467271] Chr5:177516756 [GRCh38]
Chr5:176943757 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.616C>G (p.Pro206Ala) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004572861]|not provided [RCV003443177]|not specified [RCV003151501] Chr5:177515214 [GRCh38]
Chr5:176942215 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.199G>T (p.Gly67Cys) single nucleotide variant not provided [RCV002298086] Chr5:177516387 [GRCh38]
Chr5:176943388 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1231-5G>A single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004572227]|not provided [RCV002306325] Chr5:177513087 [GRCh38]
Chr5:176940088 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.19G>A (p.Glu7Lys) single nucleotide variant not provided [RCV002298057] Chr5:177516927 [GRCh38]
Chr5:176943928 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1789A>G (p.Lys597Glu) single nucleotide variant not provided [RCV002298023] Chr5:177511871 [GRCh38]
Chr5:176938872 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1549+9C>G single nucleotide variant not provided [RCV002730250] Chr5:177512487 [GRCh38]
Chr5:176939488 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.984G>A (p.Leu328=) single nucleotide variant not provided [RCV002750782] Chr5:177513799 [GRCh38]
Chr5:176940800 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.907G>A (p.Val303Met) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003464563]|not provided [RCV002461646] Chr5:177514729 [GRCh38]
Chr5:176941730 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1733-3C>T single nucleotide variant not provided [RCV002756396] Chr5:177511930 [GRCh38]
Chr5:176938931 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1377C>T (p.Ala459=) single nucleotide variant not provided [RCV002613657] Chr5:177512802 [GRCh38]
Chr5:176939803 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.94G>A (p.Asp32Asn) single nucleotide variant not provided [RCV002616016] Chr5:177516769 [GRCh38]
Chr5:176943770 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.298+20C>T single nucleotide variant not provided [RCV002971866] Chr5:177516268 [GRCh38]
Chr5:176943269 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1230+15C>T single nucleotide variant not provided [RCV002863420] Chr5:177513338 [GRCh38]
Chr5:176940339 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1098+5C>T single nucleotide variant not provided [RCV002995962] Chr5:177513680 [GRCh38]
Chr5:176940681 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.65G>A (p.Arg22His) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003465887]|not provided [RCV002994735] Chr5:177516798 [GRCh38]
Chr5:176943799 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.113C>G (p.Pro38Arg) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004572481]|not provided [RCV002971253] Chr5:177516750 [GRCh38]
Chr5:176943751 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1018T>A (p.Tyr340Asn) single nucleotide variant not provided [RCV002686237] Chr5:177513765 [GRCh38]
Chr5:176940766 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.1621+18G>A single nucleotide variant not provided [RCV003014299] Chr5:177512304 [GRCh38]
Chr5:176939305 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.751C>T (p.Pro251Ser) single nucleotide variant Inborn genetic diseases [RCV002687166]|not provided [RCV003232844] Chr5:177514963 [GRCh38]
Chr5:176941964 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.565C>T (p.Pro189Ser) single nucleotide variant not provided [RCV002614365] Chr5:177515691 [GRCh38]
Chr5:176942692 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.199G>C (p.Gly67Arg) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004572822]|Inborn genetic diseases [RCV002883039]|not provided [RCV003443153] Chr5:177516387 [GRCh38]
Chr5:176943388 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1704C>T (p.Cys568=) single nucleotide variant not provided [RCV002690104] Chr5:177512124 [GRCh38]
Chr5:176939125 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.219T>G (p.Asp73Glu) single nucleotide variant Inborn genetic diseases [RCV002818721] Chr5:177516367 [GRCh38]
Chr5:176943368 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.847del (p.Leu283fs) deletion DDX41-related hematologic malignancy predisposition syndrome [RCV003224822]|not provided [RCV002461846] Chr5:177514789 [GRCh38]
Chr5:176941790 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.655C>T (p.Arg219Cys) single nucleotide variant Inborn genetic diseases [RCV002662804]|not provided [RCV002662803] Chr5:177515059 [GRCh38]
Chr5:176942060 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.459G>C (p.Leu153=) single nucleotide variant not provided [RCV003002838] Chr5:177515797 [GRCh38]
Chr5:176942798 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1693G>T (p.Val565Leu) single nucleotide variant not provided [RCV002825616] Chr5:177512135 [GRCh38]
Chr5:176939136 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.935+12C>T single nucleotide variant not provided [RCV002734986] Chr5:177514689 [GRCh38]
Chr5:176941690 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1302+8C>T single nucleotide variant not provided [RCV002619115] Chr5:177513003 [GRCh38]
Chr5:176940004 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.374-14G>A single nucleotide variant not provided [RCV002781358] Chr5:177516003 [GRCh38]
Chr5:176943004 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1192G>C (p.Val398Leu) single nucleotide variant Inborn genetic diseases [RCV002822997] Chr5:177513391 [GRCh38]
Chr5:176940392 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.384A>G (p.Ser128=) single nucleotide variant not provided [RCV003054262] Chr5:177515979 [GRCh38]
Chr5:176942980 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.935+11G>A single nucleotide variant not provided [RCV002795632] Chr5:177514690 [GRCh38]
Chr5:176941691 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.814C>T (p.Gln272Ter) single nucleotide variant not provided [RCV003037519] Chr5:177514822 [GRCh38]
Chr5:176941823 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.1046T>A (p.Met349Lys) single nucleotide variant not provided [RCV003037027] Chr5:177513737 [GRCh38]
Chr5:176940738 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_016222.4(DDX41):c.1755C>T (p.Cys585=) single nucleotide variant not provided [RCV002620004] Chr5:177511905 [GRCh38]
Chr5:176938906 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.59G>A (p.Gly20Glu) single nucleotide variant not provided [RCV002999046] Chr5:177516804 [GRCh38]
Chr5:176943805 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.434+14G>C single nucleotide variant not provided [RCV002590712] Chr5:177515915 [GRCh38]
Chr5:176942916 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.538A>G (p.Ile180Val) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003325244]|Inborn genetic diseases [RCV003080932]|not provided [RCV003080933] Chr5:177515718 [GRCh38]
Chr5:176942719 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.718A>G (p.Ile240Val) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003465781]|not provided [RCV002571632] Chr5:177514996 [GRCh38]
Chr5:176941997 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1411C>T (p.Arg471Trp) single nucleotide variant not provided [RCV002975737] Chr5:177512634 [GRCh38]
Chr5:176939635 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1098+11C>T single nucleotide variant not provided [RCV002590859] Chr5:177513674 [GRCh38]
Chr5:176940675 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.49C>T (p.Pro17Ser) single nucleotide variant not provided [RCV002695440] Chr5:177516814 [GRCh38]
Chr5:176943815 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1684G>A (p.Val562Met) single nucleotide variant not provided [RCV002785586] Chr5:177512144 [GRCh38]
Chr5:176939145 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.113C>T (p.Pro38Leu) single nucleotide variant not provided [RCV002636593] Chr5:177516750 [GRCh38]
Chr5:176943751 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.139-17C>T single nucleotide variant not provided [RCV002569484] Chr5:177516464 [GRCh38]
Chr5:176943465 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1532A>G (p.Glu511Gly) single nucleotide variant not provided [RCV002592945] Chr5:177512513 [GRCh38]
Chr5:176939514 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.82G>A (p.Glu28Lys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004571822]|not provided [RCV002926659] Chr5:177516781 [GRCh38]
Chr5:176943782 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1602C>T (p.Thr534=) single nucleotide variant not provided [RCV002622068] Chr5:177512341 [GRCh38]
Chr5:176939342 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.434+12C>T single nucleotide variant not provided [RCV002824589] Chr5:177515917 [GRCh38]
Chr5:176942918 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.299-16C>T single nucleotide variant not provided [RCV003038799] Chr5:177516209 [GRCh38]
Chr5:176943210 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.373+18A>C single nucleotide variant not provided [RCV002790285] Chr5:177516101 [GRCh38]
Chr5:176943102 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1733-18_1733-17del deletion not provided [RCV002596679] Chr5:177511944..177511945 [GRCh38]
Chr5:176938945..176938946 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1098+12G>A single nucleotide variant not provided [RCV002573698] Chr5:177513673 [GRCh38]
Chr5:176940674 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1099-20G>A single nucleotide variant not provided [RCV002790894] Chr5:177513504 [GRCh38]
Chr5:176940505 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.577C>G (p.Leu193Val) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003465885]|not provided [RCV003007258] Chr5:177515253 [GRCh38]
Chr5:176942254 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1549+15C>T single nucleotide variant not provided [RCV002596821] Chr5:177512481 [GRCh38]
Chr5:176939482 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1015C>T (p.Arg339Cys) single nucleotide variant not provided [RCV003059929] Chr5:177513768 [GRCh38]
Chr5:176940769 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1234G>A (p.Val412Ile) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003465789]|not provided [RCV002594360] Chr5:177513079 [GRCh38]
Chr5:176940080 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1732+19C>A single nucleotide variant not provided [RCV002576044] Chr5:177512077 [GRCh38]
Chr5:176939078 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.449G>T (p.Arg150Leu) single nucleotide variant not provided [RCV002627354] Chr5:177515807 [GRCh38]
Chr5:176942808 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.345G>A (p.Lys115=) single nucleotide variant not provided [RCV002642806] Chr5:177516147 [GRCh38]
Chr5:176943148 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.571+13T>G single nucleotide variant not provided [RCV002790210] Chr5:177515672 [GRCh38]
Chr5:176942673 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.522C>T (p.Asp174=) single nucleotide variant not provided [RCV002667370] Chr5:177515734 [GRCh38]
Chr5:176942735 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.591G>A (p.Lys197=) single nucleotide variant DDX41-related disorder [RCV003961174]|not provided [RCV002917777] Chr5:177515239 [GRCh38]
Chr5:176942240 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_016222.4(DDX41):c.1549+8C>T single nucleotide variant not provided [RCV002917805] Chr5:177512488 [GRCh38]
Chr5:176939489 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.551A>G (p.Lys184Arg) single nucleotide variant not provided [RCV002623773] Chr5:177515705 [GRCh38]
Chr5:176942706 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1275C>T (p.Leu425=) single nucleotide variant DDX41-related disorder [RCV003896238]|not provided [RCV002574363] Chr5:177513038 [GRCh38]
Chr5:176940039 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.518G>A (p.Gly173Glu) single nucleotide variant not provided [RCV002851507] Chr5:177515738 [GRCh38]
Chr5:176942739 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.420C>G (p.Asp140Glu) single nucleotide variant not provided [RCV003041783] Chr5:177515943 [GRCh38]
Chr5:176942944 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.765C>T (p.Arg255=) single nucleotide variant not provided [RCV002595060] Chr5:177514949 [GRCh38]
Chr5:176941950 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.484C>T (p.Arg162Cys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003465822]|not provided [RCV002711775] Chr5:177515772 [GRCh38]
Chr5:176942773 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.799-9dup duplication not provided [RCV002667143] Chr5:177514845..177514846 [GRCh38]
Chr5:176941846..176941847 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.572-14G>A single nucleotide variant not provided [RCV002871608] Chr5:177515272 [GRCh38]
Chr5:176942273 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.472G>A (p.Glu158Lys) single nucleotide variant Inborn genetic diseases [RCV002743277] Chr5:177515784 [GRCh38]
Chr5:176942785 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1528C>T (p.Pro510Ser) single nucleotide variant DDX41-related disorder [RCV004750770]|not provided [RCV002766518] Chr5:177512517 [GRCh38]
Chr5:176939518 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.434+1G>A single nucleotide variant not provided [RCV002626364] Chr5:177515928 [GRCh38]
Chr5:176942929 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_016222.4(DDX41):c.1099-1G>A single nucleotide variant not provided [RCV002876148] Chr5:177513485 [GRCh38]
Chr5:176940486 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.1399+17C>T single nucleotide variant not provided [RCV002828445] Chr5:177512763 [GRCh38]
Chr5:176939764 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.804G>A (p.Glu268=) single nucleotide variant not provided [RCV002982375] Chr5:177514832 [GRCh38]
Chr5:176941833 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1400-19_1400-16del deletion not provided [RCV002574261] Chr5:177512661..177512664 [GRCh38]
Chr5:176939662..176939665 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.1509C>T (p.His503=) single nucleotide variant DDX41-related disorder [RCV003973434]|not provided [RCV002581064] Chr5:177512536 [GRCh38]
Chr5:176939537 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1098+20A>G single nucleotide variant not provided [RCV003048443] Chr5:177513665 [GRCh38]
Chr5:176940666 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1431del (p.Phe478fs) deletion not provided [RCV003045867] Chr5:177512614 [GRCh38]
Chr5:176939615 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.1577C>T (p.Ser526Leu) single nucleotide variant not provided [RCV002576966] Chr5:177512366 [GRCh38]
Chr5:176939367 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.707C>T (p.Thr236Met) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004571183]|not provided [RCV002600546] Chr5:177515007 [GRCh38]
Chr5:176942008 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1569C>T (p.Thr523=) single nucleotide variant not provided [RCV002651238] Chr5:177512374 [GRCh38]
Chr5:176939375 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1050C>T (p.Ile350=) single nucleotide variant not provided [RCV002629141] Chr5:177513733 [GRCh38]
Chr5:176940734 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.139-5C>T single nucleotide variant DDX41-related disorder [RCV003906514]|Inborn genetic diseases [RCV004614359]|not provided [RCV002598633] Chr5:177516452 [GRCh38]
Chr5:176943453 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.1276G>A (p.Glu426Lys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004571187]|not provided [RCV002630416] Chr5:177513037 [GRCh38]
Chr5:176940038 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.809C>T (p.Ala270Val) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004571186]|not provided [RCV002598260] Chr5:177514827 [GRCh38]
Chr5:176941828 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.1347C>T (p.His449=) single nucleotide variant DDX41-related disorder [RCV004750820]|not provided [RCV003088731] Chr5:177512832 [GRCh38]
Chr5:176939833 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1611C>T (p.Asn537=) single nucleotide variant not provided [RCV002898556] Chr5:177512332 [GRCh38]
Chr5:176939333 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.986AGA[2] (p.Lys331del) microsatellite not provided [RCV002598701] Chr5:177513789..177513791 [GRCh38]
Chr5:176940790..176940792 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.189G>C (p.Gln63His) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003465959]|Inborn genetic diseases [RCV003092780]|not provided [RCV003086706] Chr5:177516397 [GRCh38]
Chr5:176943398 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.1621+3G>A single nucleotide variant DDX41-related disorder [RCV003943427]|not provided [RCV002576640] Chr5:177512319 [GRCh38]
Chr5:176939320 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.124C>T (p.Arg42Cys) single nucleotide variant not provided [RCV003030535] Chr5:177516739 [GRCh38]
Chr5:176943740 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.799-12C>T single nucleotide variant not provided [RCV002646067] Chr5:177514849 [GRCh38]
Chr5:176941850 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.96C>T (p.Asp32=) single nucleotide variant not provided [RCV002857777] Chr5:177516767 [GRCh38]
Chr5:176943768 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.572-4A>G single nucleotide variant not provided [RCV002715673] Chr5:177515262 [GRCh38]
Chr5:176942263 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1059C>T (p.Gly353=) single nucleotide variant not provided [RCV002630860] Chr5:177513724 [GRCh38]
Chr5:176940725 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.28-14G>C single nucleotide variant not provided [RCV002646771] Chr5:177516849 [GRCh38]
Chr5:176943850 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1296C>G (p.Pro432=) single nucleotide variant not provided [RCV003093121] Chr5:177513017 [GRCh38]
Chr5:176940018 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.578T>C (p.Leu193Pro) single nucleotide variant not provided [RCV003032107] Chr5:177515252 [GRCh38]
Chr5:176942253 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.479A>G (p.His160Arg) single nucleotide variant not provided [RCV002605275] Chr5:177515777 [GRCh38]
Chr5:176942778 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.27+7G>T single nucleotide variant not provided [RCV002605831] Chr5:177516912 [GRCh38]
Chr5:176943913 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.401A>G (p.Lys134Arg) single nucleotide variant Inborn genetic diseases [RCV003161964]|not provided [RCV002606768] Chr5:177515962 [GRCh38]
Chr5:176942963 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.633C>T (p.Gly211=) single nucleotide variant not provided [RCV003066758] Chr5:177515197 [GRCh38]
Chr5:176942198 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.777T>C (p.Tyr259=) single nucleotide variant not provided [RCV002588346] Chr5:177514937 [GRCh38]
Chr5:176941938 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1732+13C>T single nucleotide variant not provided [RCV002588901] Chr5:177512083 [GRCh38]
Chr5:176939084 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1621+9G>A single nucleotide variant not provided [RCV002612117] Chr5:177512313 [GRCh38]
Chr5:176939314 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1098+6G>A single nucleotide variant DDX41-related disorder [RCV003963696]|not provided [RCV002612203] Chr5:177513679 [GRCh38]
Chr5:176940680 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.1106G>A (p.Arg369Gln) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224845]|not provided [RCV004765776] Chr5:177513477 [GRCh38]
Chr5:176940478 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1589G>A (p.Gly530Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224841]|not provided [RCV003561243] Chr5:177512354 [GRCh38]
Chr5:176939355 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1238A>C (p.Glu413Ala) single nucleotide variant not provided [RCV003225281] Chr5:177513075 [GRCh38]
Chr5:176940076 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.164G>A (p.Arg55His) single nucleotide variant not provided [RCV003229183] Chr5:177516422 [GRCh38]
Chr5:176943423 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.523G>A (p.Gly175Ser) single nucleotide variant not provided [RCV003229248] Chr5:177515733 [GRCh38]
Chr5:176942734 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003230304]|not provided [RCV003219022] Chr5:177513753 [GRCh38]
Chr5:176940754 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_016222.4(DDX41):c.1036G>C (p.Ala346Pro) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224840] Chr5:177513747 [GRCh38]
Chr5:176940748 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.962C>T (p.Pro321Leu) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224849] Chr5:177513821 [GRCh38]
Chr5:176940822 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.715G>A (p.Val239Ile) single nucleotide variant Inborn genetic diseases [RCV003286750]|not provided [RCV004765788] Chr5:177514999 [GRCh38]
Chr5:176942000 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1237G>A (p.Glu413Lys) single nucleotide variant not provided [RCV003223889] Chr5:177513076 [GRCh38]
Chr5:176940077 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.935+4A>T single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224834]|Inborn genetic diseases [RCV004285603] Chr5:177514697 [GRCh38]
Chr5:176941698 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NM_016222.4(DDX41):c.1035G>C (p.Glu345Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224839] Chr5:177513748 [GRCh38]
Chr5:176940749 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.423del (p.Ile142fs) deletion DDX41-related disorder [RCV003410309]|DDX41-related hematologic malignancy predisposition syndrome [RCV003224847] Chr5:177515940 [GRCh38]
Chr5:176942941 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_016222.4(DDX41):c.435-1G>T single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224848] Chr5:177515822 [GRCh38]
Chr5:176942823 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.421C>T (p.Pro141Ser) single nucleotide variant not provided [RCV003225405] Chr5:177515942 [GRCh38]
Chr5:176942943 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.191A>G (p.Gln64Arg) single nucleotide variant Inborn genetic diseases [RCV003205115] Chr5:177516395 [GRCh38]
Chr5:176943396 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1395C>T (p.Gly465=) single nucleotide variant not provided [RCV003159428] Chr5:177512784 [GRCh38]
Chr5:176939785 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1303-6G>A single nucleotide variant not provided [RCV003159465] Chr5:177512882 [GRCh38]
Chr5:176939883 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1126G>A (p.Ala376Thr) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224844] Chr5:177513457 [GRCh38]
Chr5:176940458 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1709A>G (p.Asp570Gly) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224846] Chr5:177512119 [GRCh38]
Chr5:176939120 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1119C>T (p.Leu373=) single nucleotide variant not provided [RCV003218900] Chr5:177513464 [GRCh38]
Chr5:176940465 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.647T>C (p.Leu216Pro) single nucleotide variant not provided [RCV003219111] Chr5:177515067 [GRCh38]
Chr5:176942068 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1603_1605delinsA (p.Phe535fs) indel DDX41-related hematologic malignancy predisposition syndrome [RCV003224835] Chr5:177512338..177512340 [GRCh38]
Chr5:176939339..176939341 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.1231-3C>G single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224836] Chr5:177513085 [GRCh38]
Chr5:176940086 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.1088_1090del (p.Ser363del) deletion DDX41-related hematologic malignancy predisposition syndrome [RCV003224837]|not provided [RCV003779803] Chr5:177513693..177513695 [GRCh38]
Chr5:176940694..176940696 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.638C>G (p.Pro213Arg) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224838] Chr5:177515192 [GRCh38]
Chr5:176942193 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1204G>T (p.Gly402Trp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224842] Chr5:177513379 [GRCh38]
Chr5:176940380 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1759G>T (p.Gly587Cys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003224843] Chr5:177511901 [GRCh38]
Chr5:176938902 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.878G>A (p.Arg293His) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003325297]|not provided [RCV003777362] Chr5:177514758 [GRCh38]
Chr5:176941759 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.656G>A (p.Arg219His) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003459836]|not provided [RCV003319640] Chr5:177515058 [GRCh38]
Chr5:176942059 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.799C>T (p.Arg267Trp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466057]|not provided [RCV003321376] Chr5:177514837 [GRCh38]
Chr5:176941838 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1563C>T (p.Gly521=) single nucleotide variant not provided [RCV003330032] Chr5:177512380 [GRCh38]
Chr5:176939381 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_016222.4(DDX41):c.1415C>T (p.Thr472Ile) single nucleotide variant not provided [RCV003325772] Chr5:177512630 [GRCh38]
Chr5:176939631 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.694A>G (p.Thr232Ala) single nucleotide variant not provided [RCV003332559] Chr5:177515020 [GRCh38]
Chr5:176942021 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.952G>A (p.Val318Met) single nucleotide variant Inborn genetic diseases [RCV003367106] Chr5:177513831 [GRCh38]
Chr5:176940832 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1259A>G (p.Lys420Arg) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003459957] Chr5:177513054 [GRCh38]
Chr5:176940055 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.844C>T (p.Arg282Cys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003475579]|not provided [RCV003779009] Chr5:177514792 [GRCh38]
Chr5:176941793 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1836G>A (p.Lys612=) single nucleotide variant not provided [RCV003569916] Chr5:177511824 [GRCh38]
Chr5:176938825 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.723G>T (p.Met241Ile) single nucleotide variant not provided [RCV003543248] Chr5:177514991 [GRCh38]
Chr5:176941992 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1110G>A (p.Gln370=) single nucleotide variant DDX41-related disorder [RCV003909046]|not provided [RCV003570718] Chr5:177513473 [GRCh38]
Chr5:176940474 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1400-16G>A single nucleotide variant not provided [RCV003570287] Chr5:177512661 [GRCh38]
Chr5:176939662 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.88G>A (p.Asp30Asn) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466134] Chr5:177516775 [GRCh38]
Chr5:176943776 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.883G>A (p.Ala295Thr) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466135]|not provided [RCV003553948] Chr5:177514753 [GRCh38]
Chr5:176941754 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.410C>T (p.Thr137Met) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466137]|not provided [RCV003661058] Chr5:177515953 [GRCh38]
Chr5:176942954 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.207A>C (p.Glu69Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466153] Chr5:177516379 [GRCh38]
Chr5:176943380 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.935+1G>T single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466160] Chr5:177514700 [GRCh38]
Chr5:176941701 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.1428G>T (p.Glu476Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466133] Chr5:177512617 [GRCh38]
Chr5:176939618 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.68C>T (p.Ser23Phe) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466152]|not provided [RCV004763693] Chr5:177516795 [GRCh38]
Chr5:176943796 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.575del (p.Ile192fs) deletion DDX41-related disorder [RCV003908981]|DDX41-related hematologic malignancy predisposition syndrome [RCV003466159] Chr5:177515255 [GRCh38]
Chr5:176942256 [GRCh37]
Chr5:5q35.3		 likely pathogenic
Single allele deletion not provided [RCV003448669] Chr5:175559209..177430432 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1 copy number loss not provided [RCV003485494] Chr5:175332333..177469711 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.22C>T (p.Arg8Trp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466138] Chr5:177516924 [GRCh38]
Chr5:176943925 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1494C>A (p.Phe498Leu) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466142] Chr5:177512551 [GRCh38]
Chr5:176939552 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.214G>A (p.Gly72Arg) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466143] Chr5:177516372 [GRCh38]
Chr5:176943373 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.108T>A (p.Tyr36Ter) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466155] Chr5:177516755 [GRCh38]
Chr5:176943756 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.362C>T (p.Ala121Val) single nucleotide variant DDX41-related disorder [RCV003391268] Chr5:177516130 [GRCh38]
Chr5:176943131 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.845G>A (p.Arg282His) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466147] Chr5:177514791 [GRCh38]
Chr5:176941792 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.204T>G (p.Ser68Arg) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466150] Chr5:177516382 [GRCh38]
Chr5:176943383 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.13G>T (p.Glu5Ter) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466161] Chr5:177516933 [GRCh38]
Chr5:176943934 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.722T>C (p.Met241Thr) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466146] Chr5:177514992 [GRCh38]
Chr5:176941993 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1496del (p.Pro499fs) deletion DDX41-related hematologic malignancy predisposition syndrome [RCV003466158]|not provided [RCV003553949] Chr5:177512549 [GRCh38]
Chr5:176939550 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_016222.4(DDX41):c.583G>C (p.Gly195Arg) single nucleotide variant DDX41-related disorder [RCV003400154] Chr5:177515247 [GRCh38]
Chr5:176942248 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.853C>G (p.Gln285Glu) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003459958] Chr5:177514783 [GRCh38]
Chr5:176941784 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.748T>G (p.Leu250Val) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003459956]|not provided [RCV003661057] Chr5:177514966 [GRCh38]
Chr5:176941967 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_016222.4(DDX41):c.963G>A (p.Pro321=) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466136]|not provided [RCV003779008] Chr5:177513820 [GRCh38]
Chr5:176940821 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.900C>T (p.Gly300=) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466140] Chr5:177514736 [GRCh38]
Chr5:176941737 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.27G>A (p.Lys9=) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466145] Chr5:177516919 [GRCh38]
Chr5:176943920 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.712C>T (p.Pro238Ser) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466154] Chr5:177515002 [GRCh38]
Chr5:176942003 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.55G>T (p.Gly19Ter) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466157] Chr5:177516808 [GRCh38]
Chr5:176943809 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.1542_1543del (p.Asn515fs) microsatellite DDX41-related disorder [RCV003408555] Chr5:177512502..177512503 [GRCh38]
Chr5:176939503..176939504 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.1850A>G (p.His617Arg) single nucleotide variant DDX41-related disorder [RCV003414238]|DDX41-related hematologic malignancy predisposition syndrome [RCV003459854] Chr5:177511810 [GRCh38]
Chr5:176938811 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.968G>A (p.Arg323His) single nucleotide variant not provided [RCV003442599] Chr5:177513815 [GRCh38]
Chr5:176940816 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.1203T>G (p.Ala401=) single nucleotide variant not provided [RCV003430032] Chr5:177513380 [GRCh38]
Chr5:176940381 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.940G>A (p.Val314Ile) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466144]|not provided [RCV003720914] Chr5:177513843 [GRCh38]
Chr5:176940844 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1309A>G (p.Ile437Val) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466148]|not provided [RCV004765843] Chr5:177512870 [GRCh38]
Chr5:176939871 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.255C>G (p.Val85=) single nucleotide variant DDX41-related disorder [RCV003410396]|DDX41-related hematologic malignancy predisposition syndrome [RCV004572973] Chr5:177516331 [GRCh38]
Chr5:176943332 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.844C>G (p.Arg282Gly) single nucleotide variant not provided [RCV003441408] Chr5:177514792 [GRCh38]
Chr5:176941793 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.902T>C (p.Met301Thr) single nucleotide variant not provided [RCV003441369] Chr5:177514734 [GRCh38]
Chr5:176941735 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1423A>T (p.Ile475Phe) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466139] Chr5:177512622 [GRCh38]
Chr5:176939623 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.632G>A (p.Gly211Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV003466151] Chr5:177515198 [GRCh38]
Chr5:176942199 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.208C>T (p.Pro70Ser) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004572977]|not provided [RCV003442718] Chr5:177516378 [GRCh38]
Chr5:176943379 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.708G>A (p.Thr236=) single nucleotide variant not provided [RCV003831915] Chr5:177515006 [GRCh38]
Chr5:176942007 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1599T>G (p.Thr533=) single nucleotide variant not provided [RCV003660105] Chr5:177512344 [GRCh38]
Chr5:176939345 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.562T>A (p.Phe188Ile) single nucleotide variant not provided [RCV003695468] Chr5:177515694 [GRCh38]
Chr5:176942695 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1399+18A>T single nucleotide variant not provided [RCV003881505] Chr5:177512762 [GRCh38]
Chr5:176939763 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.27+9G>C single nucleotide variant not provided [RCV003828354] Chr5:177516910 [GRCh38]
Chr5:176943911 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.299-15C>G single nucleotide variant not provided [RCV003579411] Chr5:177516208 [GRCh38]
Chr5:176943209 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1167C>A (p.Ala389=) single nucleotide variant not provided [RCV003830014] Chr5:177513416 [GRCh38]
Chr5:176940417 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.935+9T>G single nucleotide variant DDX41-related disorder [RCV003893378]|not provided [RCV003739418] Chr5:177514692 [GRCh38]
Chr5:176941693 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_016222.4(DDX41):c.435-18C>A single nucleotide variant not provided [RCV003712809] Chr5:177515839 [GRCh38]
Chr5:176942840 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.644+10G>T single nucleotide variant not provided [RCV003828874] Chr5:177515176 [GRCh38]
Chr5:176942177 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.438G>A (p.Trp146Ter) single nucleotide variant not provided [RCV003547017] Chr5:177515818 [GRCh38]
Chr5:176942819 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.1732+6T>G single nucleotide variant not provided [RCV003715755] Chr5:177512090 [GRCh38]
Chr5:176939091 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1565G>A (p.Arg522His) single nucleotide variant not provided [RCV003875986] Chr5:177512378 [GRCh38]
Chr5:176939379 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.966G>T (p.Gly322=) single nucleotide variant not provided [RCV003573668] Chr5:177513817 [GRCh38]
Chr5:176940818 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1231-14del deletion not provided [RCV003692521] Chr5:177513096 [GRCh38]
Chr5:176940097 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1273C>T (p.Leu425Phe) single nucleotide variant not provided [RCV003572925] Chr5:177513040 [GRCh38]
Chr5:176940041 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1303-3C>T single nucleotide variant not provided [RCV003662112] Chr5:177512879 [GRCh38]
Chr5:176939880 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.486C>T (p.Arg162=) single nucleotide variant not provided [RCV003739330] Chr5:177515770 [GRCh38]
Chr5:176942771 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1441G>A (p.Gly481Ser) single nucleotide variant not provided [RCV003660119] Chr5:177512604 [GRCh38]
Chr5:176939605 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1550-4G>C single nucleotide variant not provided [RCV003572135] Chr5:177512397 [GRCh38]
Chr5:176939398 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.645-15A>T single nucleotide variant not provided [RCV003572582] Chr5:177515084 [GRCh38]
Chr5:176942085 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.43G>C (p.Glu15Gln) single nucleotide variant not provided [RCV003545343] Chr5:177516820 [GRCh38]
Chr5:176943821 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.920T>G (p.Met307Arg) single nucleotide variant not provided [RCV003545884] Chr5:177514716 [GRCh38]
Chr5:176941717 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.859G>A (p.Asp287Asn) single nucleotide variant not provided [RCV003575496] Chr5:177514777 [GRCh38]
Chr5:176941778 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1303-7C>T single nucleotide variant not provided [RCV003575626] Chr5:177512883 [GRCh38]
Chr5:176939884 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1680G>A (p.Pro560=) single nucleotide variant not provided [RCV003876747] Chr5:177512148 [GRCh38]
Chr5:176939149 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1854C>T (p.Ser618=) single nucleotide variant not provided [RCV003714963] Chr5:177511806 [GRCh38]
Chr5:176938807 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1549+19A>G single nucleotide variant not provided [RCV003688811] Chr5:177512477 [GRCh38]
Chr5:176939478 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.409dup (p.Thr137fs) duplication not provided [RCV003660073] Chr5:177515953..177515954 [GRCh38]
Chr5:176942954..176942955 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.1062C>T (p.Phe354=) single nucleotide variant not provided [RCV003826536] Chr5:177513721 [GRCh38]
Chr5:176940722 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.546C>T (p.Ser182=) single nucleotide variant not provided [RCV003691796] Chr5:177515710 [GRCh38]
Chr5:176942711 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.901A>G (p.Met301Val) single nucleotide variant not provided [RCV003693843] Chr5:177514735 [GRCh38]
Chr5:176941736 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.800G>A (p.Arg267Gln) single nucleotide variant not provided [RCV003739471] Chr5:177514836 [GRCh38]
Chr5:176941837 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.164G>T (p.Arg55Leu) single nucleotide variant not provided [RCV003878622] Chr5:177516422 [GRCh38]
Chr5:176943423 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.952G>T (p.Val318Leu) single nucleotide variant not provided [RCV003739762] Chr5:177513831 [GRCh38]
Chr5:176940832 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1298C>T (p.Pro433Leu) single nucleotide variant not provided [RCV003696246] Chr5:177513015 [GRCh38]
Chr5:176940016 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1570G>A (p.Gly524Arg) single nucleotide variant not provided [RCV003687302] Chr5:177512373 [GRCh38]
Chr5:176939374 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1338C>T (p.Asp446=) single nucleotide variant not provided [RCV003826676] Chr5:177512841 [GRCh38]
Chr5:176939842 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.374-8C>G single nucleotide variant not provided [RCV003572610] Chr5:177515997 [GRCh38]
Chr5:176942998 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.752C>T (p.Pro251Leu) single nucleotide variant not provided [RCV003827658] Chr5:177514962 [GRCh38]
Chr5:176941963 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.298+19C>G single nucleotide variant not provided [RCV003878147] Chr5:177516269 [GRCh38]
Chr5:176943270 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1585A>G (p.Thr529Ala) single nucleotide variant not provided [RCV003663568] Chr5:177512358 [GRCh38]
Chr5:176939359 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.24G>T (p.Arg8=) single nucleotide variant not provided [RCV003579717] Chr5:177516922 [GRCh38]
Chr5:176943923 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.28-5T>C single nucleotide variant not provided [RCV003698002] Chr5:177516840 [GRCh38]
Chr5:176943841 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.584G>T (p.Gly195Val) single nucleotide variant not provided [RCV003580825] Chr5:177515246 [GRCh38]
Chr5:176942247 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.373+1G>A single nucleotide variant not provided [RCV003580974] Chr5:177516118 [GRCh38]
Chr5:176943119 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.1538T>C (p.Ile513Thr) single nucleotide variant not provided [RCV003697256] Chr5:177512507 [GRCh38]
Chr5:176939508 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.753C>A (p.Pro251=) single nucleotide variant not provided [RCV003832474] Chr5:177514961 [GRCh38]
Chr5:176941962 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1099-16C>G single nucleotide variant not provided [RCV003851958] Chr5:177513500 [GRCh38]
Chr5:176940501 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.258C>T (p.Ser86=) single nucleotide variant not provided [RCV003665151] Chr5:177516328 [GRCh38]
Chr5:176943329 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.588G>C (p.Leu196=) single nucleotide variant not provided [RCV003703020] Chr5:177515242 [GRCh38]
Chr5:176942243 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.645-20G>C single nucleotide variant not provided [RCV003811825] Chr5:177515089 [GRCh38]
Chr5:176942090 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.456T>A (p.Val152=) single nucleotide variant DDX41-related disorder [RCV003949048]|not provided [RCV003838375] Chr5:177515800 [GRCh38]
Chr5:176942801 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.451T>C (p.Tyr151His) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004573254]|not provided [RCV003717240] Chr5:177515805 [GRCh38]
Chr5:176942806 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.892A>G (p.Ile298Val) single nucleotide variant not provided [RCV003666113] Chr5:177514744 [GRCh38]
Chr5:176941745 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.919A>G (p.Met307Val) single nucleotide variant not provided [RCV003669460] Chr5:177514717 [GRCh38]
Chr5:176941718 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.138+13C>T single nucleotide variant not provided [RCV003832790] Chr5:177516712 [GRCh38]
Chr5:176943713 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1621+6T>C single nucleotide variant not provided [RCV003850251] Chr5:177512316 [GRCh38]
Chr5:176939317 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.789C>T (p.Ile263=) single nucleotide variant not provided [RCV003725933] Chr5:177514925 [GRCh38]
Chr5:176941926 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.435-8A>C single nucleotide variant DDX41-related disorder [RCV003939220]|not provided [RCV003833013] Chr5:177515829 [GRCh38]
Chr5:176942830 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1167C>T (p.Ala389=) single nucleotide variant not provided [RCV003558986] Chr5:177513416 [GRCh38]
Chr5:176940417 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1242T>C (p.Tyr414=) single nucleotide variant not provided [RCV003816723] Chr5:177513071 [GRCh38]
Chr5:176940072 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.373+4T>C single nucleotide variant not provided [RCV003856567] Chr5:177516115 [GRCh38]
Chr5:176943116 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.104C>T (p.Pro35Leu) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004574197]|not provided [RCV003673284] Chr5:177516759 [GRCh38]
Chr5:176943760 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1224C>T (p.Val408=) single nucleotide variant not provided [RCV003855530] Chr5:177513359 [GRCh38]
Chr5:176940360 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.19G>C (p.Glu7Gln) single nucleotide variant not provided [RCV003560565] Chr5:177516927 [GRCh38]
Chr5:176943928 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1099-11del deletion not provided [RCV003851957] Chr5:177513495 [GRCh38]
Chr5:176940496 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.104C>G (p.Pro35Arg) single nucleotide variant not provided [RCV003839923] Chr5:177516759 [GRCh38]
Chr5:176943760 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.571+14G>A single nucleotide variant not provided [RCV003673602] Chr5:177515671 [GRCh38]
Chr5:176942672 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1098+16G>A single nucleotide variant not provided [RCV003816265] Chr5:177513669 [GRCh38]
Chr5:176940670 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1733-20C>T single nucleotide variant not provided [RCV003667445] Chr5:177511947 [GRCh38]
Chr5:176938948 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.507C>T (p.Ile169=) single nucleotide variant not provided [RCV003838234] Chr5:177515749 [GRCh38]
Chr5:176942750 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1231-20C>T single nucleotide variant not provided [RCV003816324] Chr5:177513102 [GRCh38]
Chr5:176940103 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.27+11G>A single nucleotide variant not provided [RCV003854799] Chr5:177516908 [GRCh38]
Chr5:176943909 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1060T>C (p.Phe354Leu) single nucleotide variant not provided [RCV003666059] Chr5:177513723 [GRCh38]
Chr5:176940724 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.337G>A (p.Glu113Lys) single nucleotide variant not provided [RCV003558321] Chr5:177516155 [GRCh38]
Chr5:176943156 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.27+1G>A single nucleotide variant not provided [RCV003816352] Chr5:177516918 [GRCh38]
Chr5:176943919 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.292G>A (p.Ala98Thr) single nucleotide variant not provided [RCV003666940] Chr5:177516294 [GRCh38]
Chr5:176943295 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.681G>T (p.Thr227=) single nucleotide variant not provided [RCV003667029] Chr5:177515033 [GRCh38]
Chr5:176942034 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1644C>T (p.Leu548=) single nucleotide variant DDX41-related disorder [RCV003909000]|not provided [RCV003548079] Chr5:177512184 [GRCh38]
Chr5:176939185 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1225A>G (p.Ile409Val) single nucleotide variant not provided [RCV003854473] Chr5:177513358 [GRCh38]
Chr5:176940359 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.405C>T (p.Gly135=) single nucleotide variant not provided [RCV003667754] Chr5:177515958 [GRCh38]
Chr5:176942959 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1732+14G>A single nucleotide variant not provided [RCV003697946] Chr5:177512082 [GRCh38]
Chr5:176939083 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.163C>T (p.Arg55Cys) single nucleotide variant not provided [RCV003835521] Chr5:177516423 [GRCh38]
Chr5:176943424 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1303-17T>G single nucleotide variant not provided [RCV003850172] Chr5:177512893 [GRCh38]
Chr5:176939894 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.16C>A (p.Pro6Thr) single nucleotide variant not provided [RCV003852268] Chr5:177516930 [GRCh38]
Chr5:176943931 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1794C>T (p.Leu598=) single nucleotide variant not provided [RCV003814621] Chr5:177511866 [GRCh38]
Chr5:176938867 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.139-16C>T single nucleotide variant not provided [RCV003672362] Chr5:177516463 [GRCh38]
Chr5:176943464 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.434+13A>G single nucleotide variant not provided [RCV003834835] Chr5:177515916 [GRCh38]
Chr5:176942917 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.572-15G>A single nucleotide variant not provided [RCV003668348] Chr5:177515273 [GRCh38]
Chr5:176942274 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.27+13C>T single nucleotide variant not provided [RCV003663928] Chr5:177516906 [GRCh38]
Chr5:176943907 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1099-12C>G single nucleotide variant not provided [RCV003665632] Chr5:177513496 [GRCh38]
Chr5:176940497 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.487G>A (p.Val163Met) single nucleotide variant not provided [RCV003818562] Chr5:177515769 [GRCh38]
Chr5:176942770 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.374-17C>T single nucleotide variant not provided [RCV003823181] Chr5:177516006 [GRCh38]
Chr5:176943007 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.769G>C (p.Gly257Arg) single nucleotide variant not provided [RCV003711155] Chr5:177514945 [GRCh38]
Chr5:176941946 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1733-17del deletion not provided [RCV003857928] Chr5:177511944 [GRCh38]
Chr5:176938945 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.374-16A>G single nucleotide variant not provided [RCV003844664] Chr5:177516005 [GRCh38]
Chr5:176943006 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.374-15T>C single nucleotide variant not provided [RCV003860170] Chr5:177516004 [GRCh38]
Chr5:176943005 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1231-18T>C single nucleotide variant not provided [RCV003711243] Chr5:177513100 [GRCh38]
Chr5:176940101 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.139C>T (p.Leu47Phe) single nucleotide variant not provided [RCV003857411] Chr5:177516447 [GRCh38]
Chr5:176943448 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1868G>A (p.Ter623=) single nucleotide variant not provided [RCV003682942] Chr5:177511792 [GRCh38]
Chr5:176938793 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1679C>T (p.Pro560Leu) single nucleotide variant not provided [RCV003675082] Chr5:177512149 [GRCh38]
Chr5:176939150 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.27+19C>T single nucleotide variant not provided [RCV003822618] Chr5:177516900 [GRCh38]
Chr5:176943901 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.27+17A>C single nucleotide variant not provided [RCV003845247] Chr5:177516902 [GRCh38]
Chr5:176943903 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1740C>T (p.Arg580=) single nucleotide variant not provided [RCV003821716] Chr5:177511920 [GRCh38]
Chr5:176938921 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1026C>G (p.Ala342=) single nucleotide variant not provided [RCV003864396] Chr5:177513757 [GRCh38]
Chr5:176940758 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.726C>G (p.Phe242Leu) single nucleotide variant not provided [RCV003734121] Chr5:177514988 [GRCh38]
Chr5:176941989 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.298+8G>A single nucleotide variant DDX41-related disorder [RCV003966530]|not provided [RCV003568341] Chr5:177516280 [GRCh38]
Chr5:176943281 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.645-8C>T single nucleotide variant DDX41-related disorder [RCV003984406]|not provided [RCV003682557] Chr5:177515077 [GRCh38]
Chr5:176942078 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.373+15A>G single nucleotide variant not provided [RCV003706334] Chr5:177516104 [GRCh38]
Chr5:176943105 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.562T>C (p.Phe188Leu) single nucleotide variant not provided [RCV003563956] Chr5:177515694 [GRCh38]
Chr5:176942695 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.457C>A (p.Leu153Met) single nucleotide variant not provided [RCV003681695] Chr5:177515799 [GRCh38]
Chr5:176942800 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.299-10_299-8del microsatellite not provided [RCV003734393] Chr5:177516201..177516203 [GRCh38]
Chr5:176943202..176943204 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.504C>T (p.His168=) single nucleotide variant not provided [RCV003682522] Chr5:177515752 [GRCh38]
Chr5:176942753 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.23G>T (p.Arg8Leu) single nucleotide variant not provided [RCV003678462] Chr5:177516923 [GRCh38]
Chr5:176943924 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.608A>G (p.His203Arg) single nucleotide variant not provided [RCV003858183] Chr5:177515222 [GRCh38]
Chr5:176942223 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.930C>T (p.Ile310=) single nucleotide variant not provided [RCV003568609] Chr5:177514706 [GRCh38]
Chr5:176941707 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.801G>T (p.Arg267=) single nucleotide variant not provided [RCV003865779] Chr5:177514835 [GRCh38]
Chr5:176941836 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1098+11del deletion not provided [RCV003866938] Chr5:177513674 [GRCh38]
Chr5:176940675 [GRCh37]
Chr5:5q35.3		 benign
NM_016222.4(DDX41):c.1465A>G (p.Thr489Ala) single nucleotide variant not provided [RCV003683911] Chr5:177512580 [GRCh38]
Chr5:176939581 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.302G>A (p.Arg101His) single nucleotide variant not provided [RCV003706646] Chr5:177516190 [GRCh38]
Chr5:176943191 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.27+3A>C single nucleotide variant not provided [RCV003705360] Chr5:177516916 [GRCh38]
Chr5:176943917 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1368G>C (p.Gly456=) single nucleotide variant not provided [RCV003842411] Chr5:177512811 [GRCh38]
Chr5:176939812 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.937G>C (p.Gly313Arg) single nucleotide variant not provided [RCV003736032] Chr5:177513846 [GRCh38]
Chr5:176940847 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.367G>A (p.Gly123Ser) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004573373]|not provided [RCV003869822] Chr5:177516125 [GRCh38]
Chr5:176943126 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1 copy number loss not specified [RCV003986570] Chr5:176385815..178410738 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176744569-177107777)x3 copy number gain not specified [RCV003986576] Chr5:176744569..177107777 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.944A>C (p.His315Pro) single nucleotide variant not provided [RCV003565802] Chr5:177513839 [GRCh38]
Chr5:176940840 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.261C>G (p.Leu87=) single nucleotide variant not provided [RCV003721763] Chr5:177516325 [GRCh38]
Chr5:176943326 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1014_1023del (p.Cys338fs) deletion not provided [RCV003685421] Chr5:177513760..177513769 [GRCh38]
Chr5:176940761..176940770 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.572-16C>T single nucleotide variant not provided [RCV003860857] Chr5:177515274 [GRCh38]
Chr5:176942275 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1018T>C (p.Tyr340His) single nucleotide variant not provided [RCV003720990] Chr5:177513765 [GRCh38]
Chr5:176940766 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.154C>T (p.Gln52Ter) single nucleotide variant DDX41-related disorder [RCV003941362] Chr5:177516432 [GRCh38]
Chr5:176943433 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.374-12C>T single nucleotide variant not provided [RCV003821940] Chr5:177516001 [GRCh38]
Chr5:176943002 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.139-12G>C single nucleotide variant not provided [RCV003867169] Chr5:177516459 [GRCh38]
Chr5:176943460 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.645-20G>A single nucleotide variant not provided [RCV003721519] Chr5:177515089 [GRCh38]
Chr5:176942090 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1266G>A (p.Val422=) single nucleotide variant not provided [RCV003722763] Chr5:177513047 [GRCh38]
Chr5:176940048 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1063G>A (p.Glu355Lys) single nucleotide variant not provided [RCV003737264] Chr5:177513720 [GRCh38]
Chr5:176940721 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1154_1155del (p.Phe385fs) deletion not provided [RCV003870085] Chr5:177513428..177513429 [GRCh38]
Chr5:176940429..176940430 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_016222.4(DDX41):c.583G>A (p.Gly195Ser) single nucleotide variant not provided [RCV003722962] Chr5:177515247 [GRCh38]
Chr5:176942248 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1230G>A (p.Gln410=) single nucleotide variant not provided [RCV003685443] Chr5:177513353 [GRCh38]
Chr5:176940354 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.248C>T (p.Ser83Phe) single nucleotide variant not provided [RCV003841133] Chr5:177516338 [GRCh38]
Chr5:176943339 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.265G>A (p.Asp89Asn) single nucleotide variant not provided [RCV003679702] Chr5:177516321 [GRCh38]
Chr5:176943322 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.783C>T (p.Leu261=) single nucleotide variant not provided [RCV003853160] Chr5:177514931 [GRCh38]
Chr5:176941932 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.893T>C (p.Ile298Thr) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004574260]|not provided [RCV003709035] Chr5:177514743 [GRCh38]
Chr5:176941744 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1550-11_1550-9del deletion not provided [RCV003845623] Chr5:177512402..177512404 [GRCh38]
Chr5:176939403..176939405 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.373+19T>C single nucleotide variant not provided [RCV003819150] Chr5:177516100 [GRCh38]
Chr5:176943101 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.50C>G (p.Pro17Arg) single nucleotide variant not provided [RCV003565887] Chr5:177516813 [GRCh38]
Chr5:176943814 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.434+3A>G single nucleotide variant not provided [RCV003841771] Chr5:177515926 [GRCh38]
Chr5:176942927 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.146A>G (p.Lys49Arg) single nucleotide variant not provided [RCV003567494] Chr5:177516440 [GRCh38]
Chr5:176943441 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.808G>A (p.Ala270Thr) single nucleotide variant not provided [RCV003551802] Chr5:177514828 [GRCh38]
Chr5:176941829 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.298+13_298+14delinsAT indel not provided [RCV003857184] Chr5:177516274..177516275 [GRCh38]
Chr5:176943275..176943276 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.945C>T (p.His315=) single nucleotide variant not provided [RCV003562497] Chr5:177513838 [GRCh38]
Chr5:176940839 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1254G>A (p.Glu418=) single nucleotide variant not provided [RCV003728530] Chr5:177513059 [GRCh38]
Chr5:176940060 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.434+12C>G single nucleotide variant not provided [RCV003563571] Chr5:177515917 [GRCh38]
Chr5:176942918 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.75G>A (p.Ala25=) single nucleotide variant not provided [RCV003565123] Chr5:177516788 [GRCh38]
Chr5:176943789 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.435-19C>T single nucleotide variant not provided [RCV003681568] Chr5:177515840 [GRCh38]
Chr5:176942841 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.774C>T (p.Pro258=) single nucleotide variant not provided [RCV003864635] Chr5:177514940 [GRCh38]
Chr5:176941941 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.135A>C (p.Leu45=) single nucleotide variant not provided [RCV003819985] Chr5:177516728 [GRCh38]
Chr5:176943729 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.464T>C (p.Met155Thr) single nucleotide variant not provided [RCV003859998] Chr5:177515792 [GRCh38]
Chr5:176942793 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.876G>A (p.Leu292=) single nucleotide variant not provided [RCV003822847] Chr5:177514760 [GRCh38]
Chr5:176941761 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.524G>A (p.Gly175Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004573272]|not provided [RCV003734482] Chr5:177515732 [GRCh38]
Chr5:176942733 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.753C>T (p.Pro251=) single nucleotide variant not provided [RCV003554168] Chr5:177514961 [GRCh38]
Chr5:176941962 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1098+12G>C single nucleotide variant not provided [RCV003820408] Chr5:177513673 [GRCh38]
Chr5:176940674 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.763C>T (p.Arg255Cys) single nucleotide variant not provided [RCV003705911] Chr5:177514951 [GRCh38]
Chr5:176941952 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1593C>T (p.Ile531=) single nucleotide variant DDX41-related disorder [RCV003954622] Chr5:177512350 [GRCh38]
Chr5:176939351 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.*1G>A single nucleotide variant DDX41-related disorder [RCV003969608] Chr5:177511790 [GRCh38]
Chr5:176938791 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1302+3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003988814] Chr5:177513008 [GRCh38]
Chr5:176940009 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.714C>T (p.Pro238=) single nucleotide variant DDX41-related disorder [RCV003983665] Chr5:177515000 [GRCh38]
Chr5:176942001 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.627C>T (p.Ile209=) single nucleotide variant DDX41-related disorder [RCV003896383] Chr5:177515203 [GRCh38]
Chr5:176942204 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.212G>A (p.Arg71Gln) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004573459]|Inborn genetic diseases [RCV004375826] Chr5:177516374 [GRCh38]
Chr5:176943375 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1668G>A (p.Lys556=) single nucleotide variant DDX41-related disorder [RCV003981731] Chr5:177512160 [GRCh38]
Chr5:176939161 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1230+8G>A single nucleotide variant DDX41-related disorder [RCV003963991] Chr5:177513345 [GRCh38]
Chr5:176940346 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.28-10G>C single nucleotide variant DDX41-related disorder [RCV003963947] Chr5:177516845 [GRCh38]
Chr5:176943846 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1585A>C (p.Thr529Pro) single nucleotide variant DDX41-related disorder [RCV003921753] Chr5:177512358 [GRCh38]
Chr5:176939359 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.435-9C>T single nucleotide variant DDX41-related disorder [RCV003894246] Chr5:177515830 [GRCh38]
Chr5:176942831 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1510G>A (p.Val504Ile) single nucleotide variant DDX41-related disorder [RCV003982801]|DDX41-related hematologic malignancy predisposition syndrome [RCV004573448] Chr5:177512535 [GRCh38]
Chr5:176939536 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.298+8G>T single nucleotide variant DDX41-related disorder [RCV003954444] Chr5:177516280 [GRCh38]
Chr5:176943281 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.192G>A (p.Gln64=) single nucleotide variant DDX41-related disorder [RCV003899763] Chr5:177516394 [GRCh38]
Chr5:176943395 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.508C>T (p.Leu170=) single nucleotide variant DDX41-related disorder [RCV003921836] Chr5:177515748 [GRCh38]
Chr5:176942749 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.572-5C>T single nucleotide variant DDX41-related disorder [RCV003944741] Chr5:177515263 [GRCh38]
Chr5:176942264 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1 copy number loss not provided [RCV004577486] Chr5:175470000..177450000 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_016222.4(DDX41):c.1622-3C>A single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575800] Chr5:177512209 [GRCh38]
Chr5:176939210 [GRCh37]
Chr5:5q35.3		 uncertain significance
NC_000005.9:g.(?_176936891)_(176939413_?)del deletion not provided [RCV004580632] Chr5:176936891..176939413 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.798G>A (p.Ser266=) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575779] Chr5:177514916 [GRCh38]
Chr5:176941917 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.400A>G (p.Lys134Glu) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575780] Chr5:177515963 [GRCh38]
Chr5:176942964 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.751C>G (p.Pro251Ala) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575781] Chr5:177514963 [GRCh38]
Chr5:176941964 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.739G>A (p.Glu247Lys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575782] Chr5:177514975 [GRCh38]
Chr5:176941976 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.89A>C (p.Asp30Ala) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575783] Chr5:177516774 [GRCh38]
Chr5:176943775 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.938G>A (p.Gly313Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575784]|not provided [RCV004775580] Chr5:177513845 [GRCh38]
Chr5:176940846 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.741G>C (p.Glu247Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575785] Chr5:177514973 [GRCh38]
Chr5:176941974 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1168C>T (p.Leu390Phe) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575786] Chr5:177513415 [GRCh38]
Chr5:176940416 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.72G>C (p.Glu24Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575787] Chr5:177516791 [GRCh38]
Chr5:176943792 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1159A>C (p.Lys387Gln) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575788] Chr5:177513424 [GRCh38]
Chr5:176940425 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.223G>A (p.Asp75Asn) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575789] Chr5:177516363 [GRCh38]
Chr5:176943364 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.299-3C>A single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575790] Chr5:177516196 [GRCh38]
Chr5:176943197 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1042C>T (p.Arg348Cys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575791] Chr5:177513741 [GRCh38]
Chr5:176940742 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.4G>C (p.Glu2Gln) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575792] Chr5:177516942 [GRCh38]
Chr5:176943943 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.458T>G (p.Leu153Arg) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575793] Chr5:177515798 [GRCh38]
Chr5:176942799 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.1435C>T (p.Arg479Trp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575794]|not provided [RCV004588568] Chr5:177512610 [GRCh38]
Chr5:176939611 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.448C>T (p.Arg150Cys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575795] Chr5:177515808 [GRCh38]
Chr5:176942809 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.797C>T (p.Ser266Leu) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575796] Chr5:177514917 [GRCh38]
Chr5:176941918 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.435-6C>G single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575797] Chr5:177515827 [GRCh38]
Chr5:176942828 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.839A>G (p.Tyr280Cys) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575798] Chr5:177514797 [GRCh38]
Chr5:176941798 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.881G>T (p.Cys294Phe) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575799] Chr5:177514755 [GRCh38]
Chr5:176941756 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.524G>T (p.Gly175Val) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004575801] Chr5:177515732 [GRCh38]
Chr5:176942733 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.520G>A (p.Asp174Asn) single nucleotide variant not provided [RCV004762670]   uncertain significance
NM_016222.4(DDX41):c.943C>T (p.His315Tyr) single nucleotide variant not provided [RCV004771370] Chr5:177513840 [GRCh38]
Chr5:176940841 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.47_48del (p.Val16fs) deletion DDX41-related hematologic malignancy predisposition syndrome [RCV004764595] Chr5:177516815..177516816 [GRCh38]
Chr5:176943816..176943817 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.1628C>G (p.Ser543Ter) single nucleotide variant not provided [RCV004729254] Chr5:177512200 [GRCh38]
Chr5:176939201 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.972C>T (p.Leu324=) single nucleotide variant not provided [RCV004762619]   uncertain significance
NM_016222.4(DDX41):c.1682C>T (p.Pro561Leu) single nucleotide variant not provided [RCV004775821] Chr5:177512146 [GRCh38]
Chr5:176939147 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.672C>T (p.Ile224=) single nucleotide variant not provided [RCV004772421] Chr5:177515042 [GRCh38]
Chr5:176942043 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.27+4_27+5del deletion not provided [RCV004763132]   uncertain significance
NM_016222.4(DDX41):c.571+7_571+8del deletion not provided [RCV004767834] Chr5:177515677..177515678 [GRCh38]
Chr5:176942678..176942679 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1230+3G>T single nucleotide variant DDX41-related disorder [RCV004752390] Chr5:177513350 [GRCh38]
Chr5:176940351 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1154T>G (p.Phe385Cys) single nucleotide variant not provided [RCV004760821]   uncertain significance
NM_016222.4(DDX41):c.1542G>C (p.Glu514Asp) single nucleotide variant DDX41-related hematologic malignancy predisposition syndrome [RCV004759579]   uncertain significance
NM_016222.4(DDX41):c.568G>A (p.Ala190Thr) single nucleotide variant not provided [RCV004761697]   uncertain significance
NM_016222.4(DDX41):c.1222G>A (p.Val408Ile) single nucleotide variant not provided [RCV004773989] Chr5:177513361 [GRCh38]
Chr5:176940362 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.936-8G>A single nucleotide variant DDX41-related disorder [RCV004730583] Chr5:177513855 [GRCh38]
Chr5:176940856 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.411G>A (p.Thr137=) single nucleotide variant DDX41-related disorder [RCV004752236] Chr5:177515952 [GRCh38]
Chr5:176942953 [GRCh37]
Chr5:5q35.3		 likely benign
NM_016222.4(DDX41):c.1401C>G (p.Asp467Glu) single nucleotide variant not provided [RCV004775246] Chr5:177512644 [GRCh38]
Chr5:176939645 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.138+2T>C single nucleotide variant DDX41-related disorder [RCV004732201] Chr5:177516723 [GRCh38]
Chr5:176943724 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_016222.4(DDX41):c.728G>A (p.Cys243Tyr) single nucleotide variant not provided [RCV004766320] Chr5:177514986 [GRCh38]
Chr5:176941987 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_016222.4(DDX41):c.804del (p.Glu268fs) deletion not provided [RCV004773602] Chr5:177514832 [GRCh38]
Chr5:176941833 [GRCh37]
Chr5:5q35.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5150
Count of miRNA genes:1025
Interacting mature miRNAs:1293
Transcripts:ENST00000330503, ENST00000503078, ENST00000504781, ENST00000504807, ENST00000505081, ENST00000506965, ENST00000507900, ENST00000507955, ENST00000508279, ENST00000509576, ENST00000510171, ENST00000511040, ENST00000512027, ENST00000512334, ENST00000512431, ENST00000513562, ENST00000515562
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
2289409BW320_HBody weight QTL 320 (human)3.50.0002Body weightlean mass5160925164181538259Human

Markers in Region
A002K19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,938,626 - 176,938,740UniSTSGRCh37
Build 365176,871,232 - 176,871,346RGDNCBI36
Celera5171,562,999 - 171,563,113RGD
Cytogenetic Map5q35.3UniSTS
HuRef5171,859,144 - 171,859,258UniSTS
GeneMap99-GB4 RH Map5645.92UniSTS
Whitehead-RH Map5541.7UniSTS
NCBI RH Map5973.0UniSTS
RH47489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,938,600 - 176,938,732UniSTSGRCh37
Build 365176,871,206 - 176,871,338RGDNCBI36
Celera5171,563,007 - 171,563,139RGD
Cytogenetic Map5q35.3UniSTS
HuRef5171,859,118 - 171,859,250UniSTS
GeneMap99-GB4 RH Map5645.5UniSTS
NCBI RH Map5973.0UniSTS
G16059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,938,453 - 176,938,610UniSTSGRCh37
Build 365176,871,059 - 176,871,216RGDNCBI36
Celera5171,563,129 - 171,563,286RGD
Cytogenetic Map5q35.3UniSTS
HuRef5171,858,971 - 171,859,128UniSTS
MARC_24355-24356:1030120548:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,940,781 - 176,941,782UniSTSGRCh37
Build 365176,873,387 - 176,874,388RGDNCBI36
Celera5171,559,957 - 171,560,958RGD
HuRef5171,861,299 - 171,862,300UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4973 1726 2351 6 624 1951 465 2269 7304 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC145098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF195417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ859814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB039560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC212783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC760653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000330503   ⟹   ENSP00000330349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,511,577 - 177,516,961 (-)Ensembl
Ensembl Acc Id: ENST00000503078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,511,578 - 177,516,961 (-)Ensembl
Ensembl Acc Id: ENST00000504781   ⟹   ENSP00000425739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,514,938 - 177,516,324 (-)Ensembl
Ensembl Acc Id: ENST00000504807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,512,496 - 177,514,746 (-)Ensembl
Ensembl Acc Id: ENST00000505081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,511,578 - 177,516,950 (-)Ensembl
Ensembl Acc Id: ENST00000506965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,515,022 - 177,516,950 (-)Ensembl
Ensembl Acc Id: ENST00000507900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,511,600 - 177,515,333 (-)Ensembl
Ensembl Acc Id: ENST00000507955   ⟹   ENSP00000422753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,511,577 - 177,516,945 (-)Ensembl
Ensembl Acc Id: ENST00000508279   ⟹   ENSP00000421460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,513,399 - 177,515,731 (-)Ensembl
Ensembl Acc Id: ENST00000509576   ⟹   ENSP00000426330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,514,981 - 177,516,950 (-)Ensembl
Ensembl Acc Id: ENST00000510171   ⟹   ENSP00000427082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,515,772 - 177,516,961 (-)Ensembl
Ensembl Acc Id: ENST00000511040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,513,072 - 177,515,353 (-)Ensembl
Ensembl Acc Id: ENST00000512027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,513,002 - 177,513,784 (-)Ensembl
Ensembl Acc Id: ENST00000512334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,511,577 - 177,512,545 (-)Ensembl
Ensembl Acc Id: ENST00000512431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,514,929 - 177,516,935 (-)Ensembl
Ensembl Acc Id: ENST00000513562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,513,435 - 177,515,039 (-)Ensembl
Ensembl Acc Id: ENST00000515562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,515,341 - 177,516,895 (-)Ensembl
Ensembl Acc Id: ENST00000625286   ⟹   ENSP00000487280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,516,505 - 177,516,945 (-)Ensembl
Ensembl Acc Id: ENST00000629036   ⟹   ENSP00000486367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,515,305 - 177,516,945 (-)Ensembl
Ensembl Acc Id: ENST00000650742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,512,103 - 177,516,879 (-)Ensembl
Ensembl Acc Id: ENST00000652565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,511,596 - 177,514,643 (-)Ensembl
Ensembl Acc Id: ENST00000652618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,511,628 - 177,516,638 (-)Ensembl
Ensembl Acc Id: ENST00000652623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,511,638 - 177,516,934 (-)Ensembl
RefSeq Acc Id: NM_001321732   ⟹   NP_001308661
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,511,577 - 177,516,961 (-)NCBI
CHM1_15176,371,520 - 176,377,269 (-)NCBI
T2T-CHM13v2.05178,054,559 - 178,059,943 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321830   ⟹   NP_001308759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,511,577 - 177,516,961 (-)NCBI
CHM1_15176,371,520 - 176,377,269 (-)NCBI
T2T-CHM13v2.05178,054,559 - 178,059,943 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016222   ⟹   NP_057306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,511,577 - 177,516,961 (-)NCBI
GRCh375176,938,578 - 176,943,967 (-)RGD
Build 365176,871,184 - 176,876,573 (-)NCBI Archive
Celera5171,557,772 - 171,563,161 (+)RGD
HuRef5171,859,096 - 171,864,485 (-)ENTREZGENE
CHM1_15176,371,520 - 176,377,269 (-)NCBI
T2T-CHM13v2.05178,054,559 - 178,059,943 (-)NCBI
Sequence:
RefSeq Acc Id: NP_057306   ⟸   NM_016222
- Peptide Label: isoform 1
- UniProtKB: Q9NT96 (UniProtKB/Swiss-Prot),   Q96K05 (UniProtKB/Swiss-Prot),   Q96BK6 (UniProtKB/Swiss-Prot),   B2RDC8 (UniProtKB/Swiss-Prot),   Q9NW04 (UniProtKB/Swiss-Prot),   Q9UJV9 (UniProtKB/Swiss-Prot),   Q53HI2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308759   ⟸   NM_001321830
- Peptide Label: isoform 2
- UniProtKB: B3KRK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308661   ⟸   NM_001321732
- Peptide Label: isoform 2
- UniProtKB: B3KRK2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000425739   ⟸   ENST00000504781
Ensembl Acc Id: ENSP00000487280   ⟸   ENST00000625286
Ensembl Acc Id: ENSP00000422753   ⟸   ENST00000507955
Ensembl Acc Id: ENSP00000421460   ⟸   ENST00000508279
Ensembl Acc Id: ENSP00000426330   ⟸   ENST00000509576
Ensembl Acc Id: ENSP00000486367   ⟸   ENST00000629036
Ensembl Acc Id: ENSP00000427082   ⟸   ENST00000510171
Ensembl Acc Id: ENSP00000330349   ⟸   ENST00000330503
Protein Domains
DEAD-box RNA helicase Q   Helicase ATP-binding   Helicase C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UJV9-F1-model_v2 AlphaFold Q9UJV9 1-622 view protein structure

Promoters
RGD ID:6802996
Promoter ID:HG_KWN:51922
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003MHM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,875,216 - 176,875,716 (-)MPROMDB
RGD ID:6803005
Promoter ID:HG_KWN:51923
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000253432,   UC003MHN.1,   UC003MHP.1,   UC003MHQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,876,384 - 176,876,884 (-)MPROMDB
RGD ID:6852020
Promoter ID:EP73816
Type:multiple initiation site
Name:HS_ABS
Description:DEAD-box protein abstrakt.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,876,568 - 176,876,628EPD
RGD ID:6871724
Promoter ID:EPDNEW_H9027
Type:initiation region
Name:DDX41_1
Description:DEAD-box helicase 41
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
GRCh385177,516,961 - 177,517,021EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18674 AgrOrtholog
COSMIC DDX41 COSMIC
Ensembl Genes ENSG00000183258 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000330503 ENTREZGENE
  ENST00000330503.12 UniProtKB/Swiss-Prot
  ENST00000503078 ENTREZGENE
  ENST00000504781.5 UniProtKB/TrEMBL
  ENST00000507955.6 UniProtKB/TrEMBL
  ENST00000508279.5 UniProtKB/TrEMBL
  ENST00000509576.5 UniProtKB/TrEMBL
  ENST00000510171.3 UniProtKB/TrEMBL
  ENST00000625286.1 UniProtKB/TrEMBL
  ENST00000629036.2 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183258 GTEx
HGNC ID HGNC:18674 ENTREZGENE
Human Proteome Map DDX41 Human Proteome Map
InterPro DEAD/DEAH_box_helicase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEADc_DDX41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_helicase_DEAD_Q_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51428 UniProtKB/Swiss-Prot
NCBI Gene 51428 ENTREZGENE
OMIM 608170 OMIM
PANTHER ATP-DEPENDENT RNA HELICASE DBP3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-DEPENDENT RNA HELICASE DDX41-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134908862 PharmGKB
PROSITE HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Q_MOTIF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A499FJW5_HUMAN UniProtKB/TrEMBL
  B2RDC8 ENTREZGENE
  B3KRK2 ENTREZGENE, UniProtKB/TrEMBL
  D6RD33_HUMAN UniProtKB/TrEMBL
  D6RGI7_HUMAN UniProtKB/TrEMBL
  DDX41_HUMAN UniProtKB/Swiss-Prot
  H0Y8L8_HUMAN UniProtKB/TrEMBL
  H0YA06_HUMAN UniProtKB/TrEMBL
  Q53HI2 ENTREZGENE, UniProtKB/TrEMBL
  Q96BK6 ENTREZGENE
  Q96K05 ENTREZGENE
  Q9NT96 ENTREZGENE
  Q9NW04 ENTREZGENE
  Q9UJV9 ENTREZGENE
UniProt Secondary B2RDC8 UniProtKB/Swiss-Prot
  Q96BK6 UniProtKB/Swiss-Prot
  Q96K05 UniProtKB/Swiss-Prot
  Q9NT96 UniProtKB/Swiss-Prot
  Q9NW04 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 DDX41  DEAD-box helicase 41  DDX41  DEAD (Asp-Glu-Ala-Asp) box polypeptide 41  Symbol and/or name change 5135510 APPROVED