DNA2 (DNA replication helicase/nuclease 2) - Rat Genome Database

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Gene: DNA2 (DNA replication helicase/nuclease 2) Homo sapiens
Analyze
Symbol: DNA2
Name: DNA replication helicase/nuclease 2
RGD ID: 1315606
HGNC Page HGNC:2939
Description: Enables ATP hydrolysis activity; DNA binding activity; and catalytic activity, acting on DNA. Involved in DNA metabolic process; DNA replication checkpoint signaling; and positive regulation of DNA replication. Located in gamma DNA polymerase complex; mitochondrial nucleoid; and nucleoplasm. Implicated in Seckel syndrome 8; autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6; isolated growth hormone deficiency type IA; and mitochondrial myopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA replication ATP-dependent helicase-like homolog; DNA replication ATP-dependent helicase/nuclease DNA2; DNA replication helicase 2 homolog; DNA2 (DNA replication helicase, yeast, homolog)-like; DNA2 DNA replication helicase 2-like; DNA2-like helicase; DNA2L; FLJ10063; hDNA2; KIAA0083; MGC133297; PEOA6; RTS4; SCKL8
RGD Orthologs
Mouse
Chinchilla
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
GRCh381068,414,064 - 68,472,521 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1068,414,064 - 68,472,121 (-)EnsemblGRCh38hg38GRCh38
GRCh371070,173,821 - 70,231,878 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361069,843,827 - 69,901,885 (-)NCBINCBI36Build 36hg18NCBI36
Build 341069,843,827 - 69,901,678NCBI
Celera1063,449,181 - 63,507,264 (-)NCBICelera
Cytogenetic Map10q21.3NCBI
HuRef1064,173,263 - 64,231,457 (-)NCBIHuRef
CHM1_11070,455,594 - 70,514,126 (-)NCBICHM1_1
T2T-CHM13v2.01069,283,292 - 69,341,758 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dental enamel morphology  (IAGP)
Abnormal earlobe morphology  (IAGP)
Absent earlobe  (IAGP)
Adult onset  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cachexia  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cognitive impairment  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital onset  (IAGP)
Congenital ptosis  (IAGP)
Convex nasal ridge  (IAGP)
Craniosynostosis  (IAGP)
Decreased facial expression  (IAGP)
Decreased fetal movement  (IAGP)
Decreased mitochondrial number  (IAGP)
Delayed skeletal maturation  (IAGP)
Depression  (IAGP)
Difficulty climbing stairs  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyspnea  (IAGP)
Ectopic kidney  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated creatine kinase after exercise  (IAGP)
Exercise intolerance  (IAGP)
Exertional dyspnea  (IAGP)
Falls  (IAGP)
Gait disturbance  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gowers sign  (IAGP)
Hip dysplasia  (IAGP)
Hyperlordosis  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Kyphoscoliosis  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Mild global developmental delay  (IAGP)
Mitochondrial myopathy  (IAGP)
Multiple joint contractures  (IAGP)
Multiple mitochondrial DNA deletions  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Myopathy  (IAGP)
Narrow face  (IAGP)
Obstructive sleep apnea  (IAGP)
Ophthalmoparesis  (IAGP)
Patent foramen ovale  (IAGP)
Pelvic girdle muscle weakness  (IAGP)
Prematurely aged appearance  (IAGP)
Progressive external ophthalmoplegia  (IAGP)
Prolonged QT interval  (IAGP)
Ptosis  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Slender build  (IAGP)
Slowly progressive  (IAGP)
Sparse scalp hair  (IAGP)
Spinal cord compression  (IAGP)
Tooth agenesis  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Regulation of homologous recombination in eukaryotes. Heyer WD, etal., Annu Rev Genet. 2010;44:113-39. doi: 10.1146/annurev-genet-051710-150955.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. Ronchi D, etal., Am J Hum Genet. 2013 Feb 7;92(2):293-300. doi: 10.1016/j.ajhg.2012.12.014. Epub 2013 Jan 24.
8. Genomic analysis of primordial dwarfism reveals novel disease genes. Shaheen R, etal., Genome Res. 2014 Feb;24(2):291-9. doi: 10.1101/gr.160572.113. Epub 2014 Jan 3.
Additional References at PubMed
PMID:7788527   PMID:8938459   PMID:11473323   PMID:12477932   PMID:15164054   PMID:15489334   PMID:16595799   PMID:16595800   PMID:17032657   PMID:18593712   PMID:18995831   PMID:19487465  
PMID:20019387   PMID:20131965   PMID:20379614   PMID:21325134   PMID:21873635   PMID:22570407   PMID:22570476   PMID:22658674   PMID:22678361   PMID:22678362   PMID:22987153   PMID:23503679  
PMID:23604072   PMID:23891004   PMID:24332808   PMID:24626199   PMID:24778252   PMID:25122754   PMID:25200081   PMID:25238049   PMID:25733713   PMID:25909997   PMID:26186194   PMID:27612385  
PMID:27634302   PMID:27918544   PMID:28336515   PMID:28514442   PMID:28903076   PMID:29517884   PMID:29773570   PMID:30021884   PMID:30033366   PMID:30464262   PMID:30940648   PMID:30945288  
PMID:31153714   PMID:31216032   PMID:31478350   PMID:31753913   PMID:31754720   PMID:32241893   PMID:32576938   PMID:32640226   PMID:32909097   PMID:33060197   PMID:33536335   PMID:33574966  
PMID:33957083   PMID:33961781   PMID:34047877   PMID:34373451   PMID:34709727   PMID:34800366   PMID:35271311   PMID:35300981   PMID:35563538   PMID:36538041   PMID:36916001   PMID:37055165  
PMID:37526271   PMID:38331987   PMID:38721777  


Genomics

Comparative Map Data
DNA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381068,414,064 - 68,472,521 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1068,414,064 - 68,472,121 (-)EnsemblGRCh38hg38GRCh38
GRCh371070,173,821 - 70,231,878 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361069,843,827 - 69,901,885 (-)NCBINCBI36Build 36hg18NCBI36
Build 341069,843,827 - 69,901,678NCBI
Celera1063,449,181 - 63,507,264 (-)NCBICelera
Cytogenetic Map10q21.3NCBI
HuRef1064,173,263 - 64,231,457 (-)NCBIHuRef
CHM1_11070,455,594 - 70,514,126 (-)NCBICHM1_1
T2T-CHM13v2.01069,283,292 - 69,341,758 (-)NCBIT2T-CHM13v2.0
Dna2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391062,782,762 - 62,809,967 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1062,782,805 - 62,809,964 (+)EnsemblGRCm39 Ensembl
GRCm381062,946,983 - 62,974,188 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1062,947,026 - 62,974,185 (+)EnsemblGRCm38mm10GRCm38
MGSCv371062,409,777 - 62,436,936 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361062,342,410 - 62,369,534 (+)NCBIMGSCv36mm8
Celera1064,048,162 - 64,075,318 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.51NCBI
Dna2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542520,661,727 - 20,702,754 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542520,664,412 - 20,705,070 (-)NCBIChiLan1.0ChiLan1.0
DNA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1419,626,001 - 19,683,819 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl419,626,977 - 19,684,660 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha419,758,312 - 19,814,534 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0419,896,502 - 19,954,684 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl419,896,751 - 19,954,755 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1419,798,388 - 19,856,607 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0420,000,469 - 20,058,335 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0420,343,723 - 20,401,576 (-)NCBIUU_Cfam_GSD_1.0
Dna2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721361,351,058 - 61,392,148 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365219,843,900 - 9,883,932 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365219,843,867 - 9,884,248 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1471,552,121 - 71,610,740 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11471,550,405 - 71,607,067 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21477,609,353 - 77,643,988 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DNA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1962,926,221 - 62,985,843 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl962,926,674 - 62,985,842 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604823,687,256 - 23,749,223 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dna2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247542,747,097 - 2,791,445 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247542,746,912 - 2,791,560 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNA2
662 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001080449.3(DNA2):c.2815A>G (p.Ile939Val) single nucleotide variant not provided [RCV000522643] Chr10:68419186 [GRCh38]
Chr10:70178943 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.593G>A (p.Arg198His) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV000034362]|not provided [RCV003144118] Chr10:68459230 [GRCh38]
Chr10:70218987 [GRCh37]
Chr10:10q21.3		 pathogenic|uncertain significance
NM_001080449.3(DNA2):c.679A>G (p.Lys227Glu) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV000034363] Chr10:68459144 [GRCh38]
Chr10:70218901 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile) single nucleotide variant Inborn genetic diseases [RCV004018731]|Mitochondrial DNA deletion syndrome with progressive myopathy [RCV000034364]|not provided [RCV001753440]|not specified [RCV003230376] Chr10:68431936 [GRCh38]
Chr10:70191693 [GRCh37]
Chr10:10q21.3		 pathogenic|uncertain significance
NM_001080449.3(DNA2):c.2153G>T (p.Cys718Phe) single nucleotide variant DNA2-related disorder [RCV003915466]|not provided [RCV000676509] Chr10:68430491 [GRCh38]
Chr10:70190248 [GRCh37]
Chr10:10q21.3		 benign|likely benign|uncertain significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_001080449.2(DNA2):c.104C>T (p.Pro35Leu) single nucleotide variant Malignant melanoma [RCV000069009] Chr10:68470134 [GRCh38]
Chr10:70229891 [GRCh37]
Chr10:69899897 [NCBI36]
Chr10:10q21.3		 not provided
NM_001080449.2:c.3372+6delC deletion Ateleiotic dwarfism [RCV000115040] Chr10:10q21.3 pathogenic
NM_001080449.3(DNA2):c.2219C>G (p.Ala740Gly) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV001331559] Chr10:68422880 [GRCh38]
Chr10:70182637 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3114+6del deletion Ateleiotic dwarfism [RCV000162161]|Seckel syndrome 8 [RCV000133461] Chr10:68416703 [GRCh38]
Chr10:70176460 [GRCh37]
Chr10:10q21.3		 pathogenic|likely pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
NM_001080449.3(DNA2):c.811G>A (p.Gly271Arg) single nucleotide variant Long QT syndrome [RCV000190201] Chr10:68450156 [GRCh38]
Chr10:70209913 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) deletion Mitochondrial DNA deletion syndrome with progressive myopathy [RCV002248495]|not provided [RCV000255644] Chr10:68437011..68437014 [GRCh38]
Chr10:70196768..70196771 [GRCh37]
Chr10:10q21.3		 pathogenic|likely pathogenic
GRCh37/hg19 10q21.3(chr10:70178856-70396017)x3 copy number gain See cases [RCV000239824] Chr10:70178856..70396017 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.186_187dup (p.Glu63fs) microsatellite not provided [RCV000487633] Chr10:68470050..68470051 [GRCh38]
Chr10:70229807..70229808 [GRCh37]
Chr10:10q21.3		 likely pathogenic
NM_001080449.3(DNA2):c.1899G>A (p.Ala633=) single nucleotide variant not provided [RCV000865142]|not specified [RCV000251456] Chr10:68431946 [GRCh38]
Chr10:70191703 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV002500877]|not provided [RCV000676508]|not specified [RCV000246790] Chr10:68422577 [GRCh38]
Chr10:70182334 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.357G>A (p.Leu119=) single nucleotide variant not provided [RCV000676516]|not specified [RCV000244587] Chr10:68468207 [GRCh38]
Chr10:70227964 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.507C>A (p.Ala169=) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV001658193]|Seckel syndrome 8 [RCV001658194]|not provided [RCV000676515]|not specified [RCV000249532] Chr10:68465747 [GRCh38]
Chr10:70225504 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2782G>A (p.Val928Ile) single nucleotide variant not provided [RCV000676507]|not specified [RCV000252576] Chr10:68419808 [GRCh38]
Chr10:70179565 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.592C>T (p.Arg198Cys) single nucleotide variant Inborn genetic diseases [RCV002525169]|not provided [RCV000520812] Chr10:68459231 [GRCh38]
Chr10:70218988 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1971G>A (p.Thr657=) single nucleotide variant not provided [RCV000676510]|not specified [RCV000243475] Chr10:68431874 [GRCh38]
Chr10:70191631 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2828A>T (p.Tyr943Phe) single nucleotide variant not provided [RCV000489271] Chr10:68419173 [GRCh38]
Chr10:70178930 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.186_187del (p.Cys62_Glu63delinsTer) microsatellite not provided [RCV000487922] Chr10:68470051..68470052 [GRCh38]
Chr10:70229808..70229809 [GRCh37]
Chr10:10q21.3		 likely pathogenic
NM_001080449.3(DNA2):c.240C>A (p.Cys80Ter) single nucleotide variant not provided [RCV001760760] Chr10:68469998 [GRCh38]
Chr10:70229755 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.442-39_442-38del deletion not provided [RCV001567441] Chr10:68465850..68465851 [GRCh38]
Chr10:70225607..70225608 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1796G>A (p.Arg599His) single nucleotide variant DNA2-related disorder [RCV003962350]|Inborn genetic diseases [RCV004609403]|not provided [RCV000488267] Chr10:68432283 [GRCh38]
Chr10:70192040 [GRCh37]
Chr10:10q21.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001080449.3(DNA2):c.73_74+10del deletion not provided [RCV000599000] Chr10:68471781..68471792 [GRCh38]
Chr10:70231538..70231549 [GRCh37]
Chr10:10q21.3		 likely pathogenic
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV000626157] Chr10:68416809 [GRCh38]
Chr10:70176566 [GRCh37]
Chr10:10q21.3		 likely pathogenic
NM_001080449.3(DNA2):c.287T>C (p.Ile96Thr) single nucleotide variant Inborn genetic diseases [RCV002527591]|not provided [RCV000522543] Chr10:68468277 [GRCh38]
Chr10:70228034 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.992G>A (p.Gly331Asp) single nucleotide variant not provided [RCV000413216] Chr10:68446361 [GRCh38]
Chr10:70206118 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser) single nucleotide variant DNA2-related disorder [RCV003932627]|Mitochondrial DNA deletion syndrome with progressive myopathy [RCV002502541]|not provided [RCV000876013] Chr10:68432508 [GRCh38]
Chr10:70192265 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.295T>C (p.Leu99=) single nucleotide variant DNA2-related disorder [RCV003912680]|Mitochondrial DNA deletion syndrome with progressive myopathy [RCV002488919]|not provided [RCV000871413]|not specified [RCV000431115] Chr10:68468269 [GRCh38]
Chr10:70228026 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.1763+14A>C single nucleotide variant not provided [RCV002525446]|not specified [RCV000445198] Chr10:68432380 [GRCh38]
Chr10:70192137 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.74+13G>C single nucleotide variant not provided [RCV002059920]|not specified [RCV000424152] Chr10:68471778 [GRCh38]
Chr10:70231535 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.1415+16A>C single nucleotide variant not provided [RCV002521826]|not specified [RCV000442100] Chr10:68442901 [GRCh38]
Chr10:70202658 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1057+16T>C single nucleotide variant not specified [RCV000424687] Chr10:68446280 [GRCh38]
Chr10:70206037 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1476T>C (p.Cys492=) single nucleotide variant DNA2-related disorder [RCV003959918]|not provided [RCV000872509] Chr10:68437181 [GRCh38]
Chr10:70196938 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.2358G>A (p.Gly786=) single nucleotide variant not specified [RCV000418896] Chr10:68422741 [GRCh38]
Chr10:70182498 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2706G>A (p.Ala902=) single nucleotide variant not provided [RCV002059771]|not specified [RCV000432530] Chr10:68419884 [GRCh38]
Chr10:70179641 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.888G>A (p.Pro296=) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV002502516]|not provided [RCV000872028]|not specified [RCV000419955] Chr10:68450079 [GRCh38]
Chr10:70209836 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.491A>G (p.Glu164Gly) single nucleotide variant DNA2-related disorder [RCV003959949]|not provided [RCV000871812]|not specified [RCV000426046] Chr10:68465763 [GRCh38]
Chr10:70225520 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1983+12A>C single nucleotide variant not provided [RCV002062637]|not specified [RCV000429786] Chr10:68431850 [GRCh38]
Chr10:70191607 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.720G>T (p.Leu240=) single nucleotide variant DNA2-related disorder [RCV003932634]|not provided [RCV001698160] Chr10:68450247 [GRCh38]
Chr10:70210004 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.264T>C (p.Ser88=) single nucleotide variant not provided [RCV001720231] Chr10:68468300 [GRCh38]
Chr10:70228057 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1362G>A (p.Ser454=) single nucleotide variant not provided [RCV000676511]|not specified [RCV000444445] Chr10:68442970 [GRCh38]
Chr10:70202727 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2697+18T>C single nucleotide variant not provided [RCV000514948]|not specified [RCV000441177] Chr10:68422207 [GRCh38]
Chr10:70181964 [GRCh37]
Chr10:10q21.3		 benign|likely benign
GRCh37/hg19 10q21.3(chr10:70048400-70580859)x3 copy number gain See cases [RCV000448733] Chr10:70048400..70580859 [GRCh37]
Chr10:10q21.3		 likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001080449.3(DNA2):c.1939G>A (p.Val647Met) single nucleotide variant not provided [RCV000479450] Chr10:68431906 [GRCh38]
Chr10:70191663 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.619A>G (p.Lys207Glu) single nucleotide variant not provided [RCV000479675] Chr10:68459204 [GRCh38]
Chr10:70218961 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1058-13dup duplication not provided [RCV002526574]|not specified [RCV000480448] Chr10:68445088..68445089 [GRCh38]
Chr10:70204845..70204846 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.2216T>C (p.Val739Ala) single nucleotide variant not provided [RCV000485439] Chr10:68422883 [GRCh38]
Chr10:70182640 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.-48dup duplication not specified [RCV000482907] Chr10:68471911..68471912 [GRCh38]
Chr10:70231668..70231669 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2697+13_2697+17delinsTT indel not specified [RCV000483078] Chr10:68422208..68422212 [GRCh38]
Chr10:70181965..70181969 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1102C>T (p.Arg368Cys) single nucleotide variant not specified [RCV000504327] Chr10:68445039 [GRCh38]
Chr10:70204796 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:70202661-70266435)x3 copy number gain See cases [RCV000510307] Chr10:70202661..70266435 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2697+13del deletion Mitochondrial DNA deletion syndrome with progressive myopathy [RCV002475972]|not provided [RCV001722413] Chr10:68422212 [GRCh38]
Chr10:70181969 [GRCh37]
Chr10:10q21.3		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_001080449.3(DNA2):c.3087G>A (p.Leu1029=) single nucleotide variant not specified [RCV000604947] Chr10:68416736 [GRCh38]
Chr10:70176493 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1116T>C (p.Ser372=) single nucleotide variant not provided [RCV002531714]|not specified [RCV000605102] Chr10:68445025 [GRCh38]
Chr10:70204782 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.-21T>G single nucleotide variant not specified [RCV000605194] Chr10:68471885 [GRCh38]
Chr10:70231642 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2713C>A (p.Gln905Lys) single nucleotide variant Inborn genetic diseases [RCV004023482]|not provided [RCV000514239]|not specified [RCV001821442] Chr10:68419877 [GRCh38]
Chr10:70179634 [GRCh37]
Chr10:10q21.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001080449.3(DNA2):c.796T>G (p.Trp266Gly) single nucleotide variant not provided [RCV000595628] Chr10:68450171 [GRCh38]
Chr10:70209928 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2666A>G (p.Asn889Ser) single nucleotide variant Inborn genetic diseases [RCV003281441] Chr10:68422256 [GRCh38]
Chr10:70182013 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2209-11C>T single nucleotide variant not provided [RCV002531528]|not specified [RCV000612183] Chr10:68422901 [GRCh38]
Chr10:70182658 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.2826G>A (p.Pro942=) single nucleotide variant not provided [RCV000914324]|not specified [RCV000612994] Chr10:68419175 [GRCh38]
Chr10:70178932 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1503A>G (p.Gln501=) single nucleotide variant DNA2-related disorder [RCV003915763]|not provided [RCV000896906] Chr10:68437154 [GRCh38]
Chr10:70196911 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.1058-6del deletion not provided [RCV000676512]|not specified [RCV000614315] Chr10:68445089 [GRCh38]
Chr10:70204846 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.1491A>G (p.Leu497=) single nucleotide variant not provided [RCV002531191]|not specified [RCV000604957] Chr10:68437166 [GRCh38]
Chr10:70196923 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.441+15C>T single nucleotide variant not provided [RCV002064389]|not specified [RCV000599720] Chr10:68468108 [GRCh38]
Chr10:70227865 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.1057+19del deletion Mitochondrial DNA deletion syndrome with progressive myopathy [RCV002506478]|not provided [RCV001704785] Chr10:68446277 [GRCh38]
Chr10:70206034 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1155A>G (p.Gln385=) single nucleotide variant not provided [RCV000513091] Chr10:68444986 [GRCh38]
Chr10:70204743 [GRCh37]
Chr10:10q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001080449.3(DNA2):c.52G>T (p.Glu18Ter) single nucleotide variant not provided [RCV000585131]|not specified [RCV003387891] Chr10:68471813 [GRCh38]
Chr10:70231570 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1 copy number loss not provided [RCV000513331] Chr10:68394411..70673475 [GRCh37]
Chr10:10q21.3-22.1		 likely pathogenic
NM_001080449.3(DNA2):c.71A>G (p.Glu24Gly) single nucleotide variant not provided [RCV000658563] Chr10:68471794 [GRCh38]
Chr10:70231551 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.337G>A (p.Asp113Asn) single nucleotide variant not provided [RCV001760622] Chr10:68468227 [GRCh38]
Chr10:70227984 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.720-4del deletion Mitochondrial DNA deletion syndrome with progressive myopathy [RCV002507178]|not provided [RCV000676513] Chr10:68450251 [GRCh38]
Chr10:70210008 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.720-15dup duplication not provided [RCV000676514] Chr10:68450250..68450251 [GRCh38]
Chr10:70210007..70210008 [GRCh37]
Chr10:10q21.3		 benign|likely benign
GRCh37/hg19 10q21.3(chr10:70213167-70275838)x1 copy number loss not provided [RCV000683184] Chr10:70213167..70275838 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10q21.3(chr10:70102749-70332271)x3 copy number gain not provided [RCV000737177] Chr10:70102749..70332271 [GRCh37]
Chr10:10q21.3		 benign
GRCh37/hg19 10q21.3(chr10:70213168-70263579)x3 copy number gain not provided [RCV000737178] Chr10:70213168..70263579 [GRCh37]
Chr10:10q21.3		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001080449.3(DNA2):c.1392C>G (p.Ile464Met) single nucleotide variant not provided [RCV001532603] Chr10:68442940 [GRCh38]
Chr10:70202697 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV003388022]|not provided [RCV001532604] Chr10:68459161 [GRCh38]
Chr10:70218918 [GRCh37]
Chr10:10q21.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001080449.3(DNA2):c.1416-246_1416-244dup duplication not provided [RCV001548445] Chr10:68437474..68437475 [GRCh38]
Chr10:70197231..70197232 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.939+81G>A single nucleotide variant not provided [RCV001548533] Chr10:68449947 [GRCh38]
Chr10:70209704 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1416-242_1416-241insTTG insertion not provided [RCV001576537] Chr10:68437482..68437483 [GRCh38]
Chr10:70197239..70197240 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1983+285C>T single nucleotide variant not provided [RCV001546771] Chr10:68431577 [GRCh38]
Chr10:70191334 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.720-15_720-12dup duplication not provided [RCV000964202] Chr10:68450250..68450251 [GRCh38]
Chr10:70210007..70210008 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1122T>C (p.Thr374=) single nucleotide variant not provided [RCV000921780] Chr10:68445019 [GRCh38]
Chr10:70204776 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2943T>C (p.Phe981=) single nucleotide variant not provided [RCV000882017] Chr10:68419058 [GRCh38]
Chr10:70178815 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2212A>G (p.Ile738Val) single nucleotide variant DNA2-related disorder [RCV003908344]|not provided [RCV000877298] Chr10:68422887 [GRCh38]
Chr10:70182644 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.1057+9G>T single nucleotide variant DNA2-related disorder [RCV003942850]|not provided [RCV000922329] Chr10:68446287 [GRCh38]
Chr10:70206044 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.90G>A (p.Val30=) single nucleotide variant not provided [RCV000898498] Chr10:68470148 [GRCh38]
Chr10:70229905 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.64_74+1del deletion not provided [RCV000903960] Chr10:68471790..68471801 [GRCh38]
Chr10:70231547..70231558 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.1893G>A (p.Arg631=) single nucleotide variant not provided [RCV000924879] Chr10:68431952 [GRCh38]
Chr10:70191709 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV000995534]|not provided [RCV001784529] Chr10:68431926 [GRCh38]
Chr10:70191683 [GRCh37]
Chr10:10q21.3		 likely pathogenic
NM_001080449.3(DNA2):c.2492+4T>C single nucleotide variant DNA2-related disorder [RCV003942840]|not provided [RCV000921054] Chr10:68422511 [GRCh38]
Chr10:70182268 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.2967+70G>A single nucleotide variant not provided [RCV000835615] Chr10:68418964 [GRCh38]
Chr10:70178721 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.74+136C>T single nucleotide variant not provided [RCV000835664] Chr10:68471655 [GRCh38]
Chr10:70231412 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2209-278G>T single nucleotide variant not provided [RCV000832995] Chr10:68423168 [GRCh38]
Chr10:70182925 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.258-79T>A single nucleotide variant not provided [RCV000836197] Chr10:68468385 [GRCh38]
Chr10:70228142 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.258-58C>T single nucleotide variant not provided [RCV000836198] Chr10:68468364 [GRCh38]
Chr10:70228121 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1220+305A>G single nucleotide variant not provided [RCV000828814] Chr10:68444616 [GRCh38]
Chr10:70204373 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.940-306A>C single nucleotide variant not provided [RCV000832974] Chr10:68446719 [GRCh38]
Chr10:70206476 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1058-199G>A single nucleotide variant not provided [RCV000832975] Chr10:68445282 [GRCh38]
Chr10:70205039 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1647-342C>T single nucleotide variant not provided [RCV000832978] Chr10:68432852 [GRCh38]
Chr10:70192609 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1984-216C>A single nucleotide variant not provided [RCV000832979] Chr10:68430876 [GRCh38]
Chr10:70190633 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1415+107C>T single nucleotide variant not provided [RCV000834900] Chr10:68442810 [GRCh38]
Chr10:70202567 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1647-34C>T single nucleotide variant not provided [RCV000834957] Chr10:68432544 [GRCh38]
Chr10:70192301 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2208+129C>T single nucleotide variant not provided [RCV000834958] Chr10:68430307 [GRCh38]
Chr10:70190064 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.940-220A>G single nucleotide variant not provided [RCV000843923] Chr10:68446633 [GRCh38]
Chr10:70206390 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.3114+307C>T single nucleotide variant not provided [RCV000843926] Chr10:68416402 [GRCh38]
Chr10:70176159 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.68C>T (p.Ala23Val) single nucleotide variant not provided [RCV000871523]|not specified [RCV001817007] Chr10:68471797 [GRCh38]
Chr10:70231554 [GRCh37]
Chr10:10q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001080449.3(DNA2):c.1585G>T (p.Ala529Ser) single nucleotide variant not provided [RCV000914661] Chr10:68437072 [GRCh38]
Chr10:70196829 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1416-11T>C single nucleotide variant not provided [RCV000838687] Chr10:68437252 [GRCh38]
Chr10:70197009 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.587+127C>G single nucleotide variant not provided [RCV000836199] Chr10:68465540 [GRCh38]
Chr10:70225297 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.940-98T>G single nucleotide variant not provided [RCV000836200] Chr10:68446511 [GRCh38]
Chr10:70206268 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1416-117C>T single nucleotide variant not provided [RCV000836201] Chr10:68437358 [GRCh38]
Chr10:70197115 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2209-33G>A single nucleotide variant not provided [RCV000836202] Chr10:68422923 [GRCh38]
Chr10:70182680 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2788-156T>A single nucleotide variant not provided [RCV000832390] Chr10:68419369 [GRCh38]
Chr10:70179126 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.74+244C>T single nucleotide variant not provided [RCV000832638] Chr10:68471547 [GRCh38]
Chr10:70231304 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1984-278A>C single nucleotide variant not provided [RCV000828820] Chr10:68430938 [GRCh38]
Chr10:70190695 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2968-269C>T single nucleotide variant not provided [RCV000832996] Chr10:68417124 [GRCh38]
Chr10:70176881 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2209-51del deletion not provided [RCV000834902] Chr10:68422941 [GRCh38]
Chr10:70182698 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.939+186_939+202del deletion not provided [RCV000828808] Chr10:68449826..68449842 [GRCh38]
Chr10:70209583..70209599 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1416-188A>T single nucleotide variant not provided [RCV000828815] Chr10:68437429 [GRCh38]
Chr10:70197186 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2208+259T>C single nucleotide variant not provided [RCV000830247] Chr10:68430177 [GRCh38]
Chr10:70189934 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1646+188A>G single nucleotide variant not provided [RCV000828818] Chr10:68436823 [GRCh38]
Chr10:70196580 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.258-186A>G single nucleotide variant not provided [RCV000828991] Chr10:68468492 [GRCh38]
Chr10:70228249 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1936A>C (p.Ile646Leu) single nucleotide variant not provided [RCV000994430] Chr10:68431909 [GRCh38]
Chr10:70191666 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1719C>T (p.Thr573=) single nucleotide variant not provided [RCV000828160] Chr10:68432438 [GRCh38]
Chr10:70192195 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1058-312C>T single nucleotide variant not provided [RCV000828811] Chr10:68445395 [GRCh38]
Chr10:70205152 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1220+162C>A single nucleotide variant not provided [RCV000828813] Chr10:68444759 [GRCh38]
Chr10:70204516 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.74+215G>C single nucleotide variant not provided [RCV000828970] Chr10:68471576 [GRCh38]
Chr10:70231333 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.719+301T>C single nucleotide variant not provided [RCV000829885] Chr10:68458803 [GRCh38]
Chr10:70218560 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.940-1G>A single nucleotide variant Congenital myopathy [RCV000850089] Chr10:68446414 [GRCh38]
Chr10:70206171 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:70169551-70426424)x3 copy number gain not provided [RCV000849585] Chr10:70169551..70426424 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2430C>T (p.Phe810=) single nucleotide variant not provided [RCV000870490] Chr10:68422577 [GRCh38]
Chr10:70182334 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.2898del (p.Asp967fs) deletion not provided [RCV000994429] Chr10:68419103 [GRCh38]
Chr10:70178860 [GRCh37]
Chr10:10q21.3		 likely pathogenic|uncertain significance
NM_001080449.3(DNA2):c.1247G>A (p.Ser416Asn) single nucleotide variant not provided [RCV000994431] Chr10:68443085 [GRCh38]
Chr10:70202842 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1717A>G (p.Thr573Ala) single nucleotide variant Inborn genetic diseases [RCV003272810] Chr10:68432440 [GRCh38]
Chr10:70192197 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.630A>G (p.Val210=) single nucleotide variant not provided [RCV003104588] Chr10:68459193 [GRCh38]
Chr10:70218950 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2393G>A (p.Arg798His) single nucleotide variant not provided [RCV001544562] Chr10:68422706 [GRCh38]
Chr10:70182463 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1058-115G>A single nucleotide variant not provided [RCV001575429] Chr10:68445198 [GRCh38]
Chr10:70204955 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2209-302CAAA[4] microsatellite not provided [RCV001595267] Chr10:68423173..68423176 [GRCh38]
Chr10:70182930..70182933 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1058-147A>G single nucleotide variant not provided [RCV001684496] Chr10:68445230 [GRCh38]
Chr10:70204987 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.720-84GT[2] microsatellite not provided [RCV001585442] Chr10:68450326..68450327 [GRCh38]
Chr10:70210083..70210084 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1058-306C>G single nucleotide variant not provided [RCV001576299] Chr10:68445389 [GRCh38]
Chr10:70205146 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2788-274TG[10] microsatellite not provided [RCV001648812] Chr10:68419469..68419470 [GRCh38]
Chr10:70179226..70179227 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.719+263G>A single nucleotide variant not provided [RCV001557057] Chr10:68458841 [GRCh38]
Chr10:70218598 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1880A>G (p.Asn627Ser) single nucleotide variant not provided [RCV001888999] Chr10:68431965 [GRCh38]
Chr10:70191722 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.74+111C>A single nucleotide variant not provided [RCV001558383] Chr10:68471680 [GRCh38]
Chr10:70231437 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2698-97A>C single nucleotide variant not provided [RCV001594750] Chr10:68419989 [GRCh38]
Chr10:70179746 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2208+38T>C single nucleotide variant not provided [RCV001617353] Chr10:68430398 [GRCh38]
Chr10:70190155 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.3115-99del deletion not provided [RCV001694987] Chr10:68415206 [GRCh38]
Chr10:70174963 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.-80T>C single nucleotide variant not provided [RCV001540142] Chr10:68471944 [GRCh38]
Chr10:70231701 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.768G>A (p.Val256=) single nucleotide variant not provided [RCV000885395] Chr10:68450199 [GRCh38]
Chr10:70209956 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2934A>C (p.Leu978=) single nucleotide variant not provided [RCV000879134] Chr10:68419067 [GRCh38]
Chr10:70178824 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1647-9T>C single nucleotide variant not provided [RCV000886793] Chr10:68432519 [GRCh38]
Chr10:70192276 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1728A>T (p.Gly576=) single nucleotide variant not provided [RCV001760497] Chr10:68432429 [GRCh38]
Chr10:70192186 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.193C>T (p.Arg65Cys) single nucleotide variant not provided [RCV002560157]|not specified [RCV001192894] Chr10:68470045 [GRCh38]
Chr10:70229802 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.199G>C (p.Val67Leu) single nucleotide variant not provided [RCV000913571] Chr10:68470039 [GRCh38]
Chr10:70229796 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2979C>A (p.Leu993=) single nucleotide variant not provided [RCV000911867] Chr10:68416844 [GRCh38]
Chr10:70176601 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.588-238T>A single nucleotide variant not provided [RCV001557192] Chr10:68459473 [GRCh38]
Chr10:70219230 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.*202del deletion not provided [RCV001552393] Chr10:68414837 [GRCh38]
Chr10:70174594 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.940-331_940-317del deletion not provided [RCV001558866] Chr10:68446730..68446744 [GRCh38]
Chr10:70206487..70206501 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.720-15_720-14dup duplication DNA2-related disorder [RCV003931185]|not provided [RCV001558960] Chr10:68450250..68450251 [GRCh38]
Chr10:70210007..70210008 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.1416-224A>G single nucleotide variant not provided [RCV001595707] Chr10:68437465 [GRCh38]
Chr10:70197222 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.3115-21T>C single nucleotide variant not provided [RCV001718008] Chr10:68415128 [GRCh38]
Chr10:70174885 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.995T>G (p.Leu332Trp) single nucleotide variant Inborn genetic diseases [RCV002579484]|not provided [RCV001594224] Chr10:68446358 [GRCh38]
Chr10:70206115 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.442-130A>T single nucleotide variant not provided [RCV001561109] Chr10:68465942 [GRCh38]
Chr10:70225699 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1817del (p.Tyr606fs) deletion not provided [RCV001008944] Chr10:68432262 [GRCh38]
Chr10:70192019 [GRCh37]
Chr10:10q21.3		 likely pathogenic
NM_001080449.3(DNA2):c.*89A>T single nucleotide variant not provided [RCV001540317] Chr10:68414950 [GRCh38]
Chr10:70174707 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.258-106del deletion not provided [RCV001714306] Chr10:68468412 [GRCh38]
Chr10:70228169 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1058-320dup duplication not provided [RCV001716979] Chr10:68445402..68445403 [GRCh38]
Chr10:70205159..70205160 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1415+59C>T single nucleotide variant not provided [RCV001593925] Chr10:68442858 [GRCh38]
Chr10:70202615 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1416-247A>G single nucleotide variant not provided [RCV001639354] Chr10:68437488 [GRCh38]
Chr10:70197245 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1220+182T>C single nucleotide variant not provided [RCV001613560] Chr10:68444739 [GRCh38]
Chr10:70204496 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1221-245C>T single nucleotide variant not provided [RCV001571893] Chr10:68443356 [GRCh38]
Chr10:70203113 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2473G>A (p.Val825Met) single nucleotide variant not provided [RCV001596580] Chr10:68422534 [GRCh38]
Chr10:70182291 [GRCh37]
Chr10:10q21.3		 likely benign|conflicting interpretations of pathogenicity
NM_001080449.3(DNA2):c.1416-242_1416-241insTG insertion not provided [RCV001599098] Chr10:68437482..68437483 [GRCh38]
Chr10:70197239..70197240 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.437T>G (p.Phe146Cys) single nucleotide variant not provided [RCV001575216] Chr10:68468127 [GRCh38]
Chr10:70227884 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1416-241T>A single nucleotide variant not provided [RCV001681826] Chr10:68437482 [GRCh38]
Chr10:70197239 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1057+125dup duplication not provided [RCV001609711] Chr10:68446163..68446164 [GRCh38]
Chr10:70205920..70205921 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.939+37dup duplication not provided [RCV001714277] Chr10:68449973..68449974 [GRCh38]
Chr10:70209730..70209731 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1416-246_1416-245dup duplication not provided [RCV001692711] Chr10:68437474..68437475 [GRCh38]
Chr10:70197231..70197232 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.940-24G>A single nucleotide variant not provided [RCV001587944] Chr10:68446437 [GRCh38]
Chr10:70206194 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.939+263A>G single nucleotide variant not provided [RCV001568179] Chr10:68449765 [GRCh38]
Chr10:70209522 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1220+195del deletion not provided [RCV001539959] Chr10:68444726 [GRCh38]
Chr10:70204483 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2618A>G (p.Tyr873Cys) single nucleotide variant Microcephaly [RCV001252893]|not provided [RCV001585915] Chr10:68422304 [GRCh38]
Chr10:70182061 [GRCh37]
Chr10:10q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001080449.3(DNA2):c.1808T>C (p.Phe603Ser) single nucleotide variant Inborn genetic diseases [RCV001265866]|not provided [RCV002541622] Chr10:68432271 [GRCh38]
Chr10:70192028 [GRCh37]
Chr10:10q21.3		 likely pathogenic|uncertain significance
NM_001080449.3(DNA2):c.2156G>T (p.Arg719Ile) single nucleotide variant Seckel syndrome 8 [RCV001336144] Chr10:68430488 [GRCh38]
Chr10:70190245 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.707T>C (p.Met236Thr) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV003987838]|Seckel syndrome 8 [RCV001333709] Chr10:68459116 [GRCh38]
Chr10:70218873 [GRCh37]
Chr10:10q21.3		 uncertain significance|not provided
NM_001080449.3(DNA2):c.2698-64G>C single nucleotide variant not provided [RCV001527937] Chr10:68419956 [GRCh38]
Chr10:70179713 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2884G>A (p.Glu962Lys) single nucleotide variant not provided [RCV001311708] Chr10:68419117 [GRCh38]
Chr10:70178874 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.163G>A (p.Val55Ile) single nucleotide variant not provided [RCV001526844] Chr10:68470075 [GRCh38]
Chr10:70229832 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3115-169del deletion not provided [RCV001684827] Chr10:68415276 [GRCh38]
Chr10:70175033 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.719+62GT[2] microsatellite not provided [RCV001590760] Chr10:68459037..68459038 [GRCh38]
Chr10:70218794..70218795 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.939+200C>T single nucleotide variant not provided [RCV001589677] Chr10:68449828 [GRCh38]
Chr10:70209585 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.939+137T>C single nucleotide variant not provided [RCV001674102] Chr10:68449891 [GRCh38]
Chr10:70209648 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1220+179dup duplication not provided [RCV001696277] Chr10:68444725..68444726 [GRCh38]
Chr10:70204482..70204483 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.939+54del deletion not provided [RCV001617116] Chr10:68449974 [GRCh38]
Chr10:70209731 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.857G>A (p.Arg286Gln) single nucleotide variant not provided [RCV001732284] Chr10:68450110 [GRCh38]
Chr10:70209867 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.989C>G (p.Ala330Gly) single nucleotide variant not provided [RCV003109077] Chr10:68446364 [GRCh38]
Chr10:70206121 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2867G>A (p.Arg956His) single nucleotide variant not provided [RCV001726818] Chr10:68419134 [GRCh38]
Chr10:70178891 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1754C>T (p.Thr585Met) single nucleotide variant not provided [RCV001761180] Chr10:68432403 [GRCh38]
Chr10:70192160 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV002272692]|not provided [RCV003688957] Chr10:68444928 [GRCh38]
Chr10:70204685 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.258-1G>T single nucleotide variant not provided [RCV001783124] Chr10:68468307 [GRCh38]
Chr10:70228064 [GRCh37]
Chr10:10q21.3		 pathogenic|uncertain significance
NM_001080449.3(DNA2):c.2209-12_2209-4del deletion not provided [RCV001772506] Chr10:68422894..68422902 [GRCh38]
Chr10:70182651..70182659 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.452C>A (p.Pro151Gln) single nucleotide variant not provided [RCV001764852] Chr10:68465802 [GRCh38]
Chr10:70225559 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2230A>G (p.Met744Val) single nucleotide variant not provided [RCV001773035] Chr10:68422869 [GRCh38]
Chr10:70182626 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2175del (p.Ser725_Leu726insTer) deletion not provided [RCV001767857] Chr10:68430469 [GRCh38]
Chr10:70190226 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2339G>A (p.Arg780Gln) single nucleotide variant not provided [RCV001774210] Chr10:68422760 [GRCh38]
Chr10:70182517 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2093G>A (p.Arg698His) single nucleotide variant not provided [RCV001774239] Chr10:68430551 [GRCh38]
Chr10:70190308 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.27G>A (p.Leu9=) single nucleotide variant not provided [RCV001772934] Chr10:68471838 [GRCh38]
Chr10:70231595 [GRCh37]
Chr10:10q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001080449.3(DNA2):c.988G>T (p.Ala330Ser) single nucleotide variant not provided [RCV001752250] Chr10:68446365 [GRCh38]
Chr10:70206122 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.493G>T (p.Val165Leu) single nucleotide variant not provided [RCV001800100] Chr10:68465761 [GRCh38]
Chr10:70225518 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.662C>A (p.Ala221Glu) single nucleotide variant not provided [RCV001752383] Chr10:68459161 [GRCh38]
Chr10:70218918 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.674T>G (p.Met225Arg) single nucleotide variant not provided [RCV001769277] Chr10:68459149 [GRCh38]
Chr10:70218906 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1220+2T>C single nucleotide variant not provided [RCV001780966] Chr10:68444919 [GRCh38]
Chr10:70204676 [GRCh37]
Chr10:10q21.3		 likely pathogenic|uncertain significance
NM_001080449.3(DNA2):c.452C>T (p.Pro151Leu) single nucleotide variant not provided [RCV001963782] Chr10:68465802 [GRCh38]
Chr10:70225559 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1485A>G (p.Gln495=) single nucleotide variant not provided [RCV003772285]|not specified [RCV001817283] Chr10:68437172 [GRCh38]
Chr10:70196929 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_001080449.3(DNA2):c.916A>T (p.Asn306Tyr) single nucleotide variant Seckel syndrome 8 [RCV001808904]|not provided [RCV003708612] Chr10:68450051 [GRCh38]
Chr10:70209808 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1450del (p.Arg484fs) deletion Mitochondrial DNA deletion syndrome with progressive myopathy [RCV001808983] Chr10:68437207 [GRCh38]
Chr10:70196964 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1718C>T (p.Thr573Ile) single nucleotide variant not provided [RCV001806633] Chr10:68432439 [GRCh38]
Chr10:70192196 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.411G>C (p.Met137Ile) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV001808193] Chr10:68468153 [GRCh38]
Chr10:70227910 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2546G>T (p.Gly849Val) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV001808985] Chr10:68422376 [GRCh38]
Chr10:70182133 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2967T>C (p.Thr989=) single nucleotide variant not provided [RCV001929917] Chr10:68419034 [GRCh38]
Chr10:70178791 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3137A>G (p.Glu1046Gly) single nucleotide variant not provided [RCV001971789] Chr10:68415085 [GRCh38]
Chr10:70174842 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1346C>G (p.Thr449Ser) single nucleotide variant not provided [RCV001983999] Chr10:68442986 [GRCh38]
Chr10:70202743 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3157A>G (p.Ile1053Val) single nucleotide variant not provided [RCV002045545] Chr10:68415065 [GRCh38]
Chr10:70174822 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1078C>A (p.Gln360Lys) single nucleotide variant Inborn genetic diseases [RCV003170288]|not provided [RCV001970768] Chr10:68445063 [GRCh38]
Chr10:70204820 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1063T>A (p.Leu355Ile) single nucleotide variant not provided [RCV001927377] Chr10:68445078 [GRCh38]
Chr10:70204835 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1010A>G (p.Lys337Arg) single nucleotide variant not provided [RCV001847390] Chr10:68446343 [GRCh38]
Chr10:70206100 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70209765)_(70210024_?)del deletion not provided [RCV002043285] Chr10:70209765..70210024 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1220+18A>G single nucleotide variant not provided [RCV001912669] Chr10:68444903 [GRCh38]
Chr10:70204660 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_001080449.3(DNA2):c.2257C>T (p.Arg753Cys) single nucleotide variant not provided [RCV001870796] Chr10:68422842 [GRCh38]
Chr10:70182599 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NM_001080449.3(DNA2):c.2455G>T (p.Ala819Ser) single nucleotide variant not provided [RCV001908645] Chr10:68422552 [GRCh38]
Chr10:70182309 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2684T>A (p.Leu895His) single nucleotide variant not provided [RCV001945992] Chr10:68422238 [GRCh38]
Chr10:70181995 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:70190933-70280081)x1 copy number loss not provided [RCV001827784] Chr10:70190933..70280081 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.32T>A (p.Met11Lys) single nucleotide variant not provided [RCV001895037] Chr10:68471833 [GRCh38]
Chr10:70231590 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1823G>A (p.Ser608Asn) single nucleotide variant Inborn genetic diseases [RCV003375418]|not provided [RCV001893652] Chr10:68432256 [GRCh38]
Chr10:70192013 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.931C>T (p.Arg311Cys) single nucleotide variant not provided [RCV001984137] Chr10:68450036 [GRCh38]
Chr10:70209793 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.179G>A (p.Gly60Glu) single nucleotide variant Inborn genetic diseases [RCV002550417]|not provided [RCV001894598] Chr10:68470059 [GRCh38]
Chr10:70229816 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1774C>T (p.Arg592Ter) single nucleotide variant not provided [RCV001947753]|not specified [RCV004690172] Chr10:68432305 [GRCh38]
Chr10:70192062 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2327T>C (p.Leu776Pro) single nucleotide variant not provided [RCV002042624] Chr10:68422772 [GRCh38]
Chr10:70182529 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.152C>T (p.Ala51Val) single nucleotide variant Inborn genetic diseases [RCV004042663]|not provided [RCV001935195] Chr10:68470086 [GRCh38]
Chr10:70229843 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70209765)_(70231621_?)dup duplication not provided [RCV001875214] Chr10:70209765..70231621 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1687G>A (p.Asp563Asn) single nucleotide variant Inborn genetic diseases [RCV002557748]|not provided [RCV001923503] Chr10:68432470 [GRCh38]
Chr10:70192227 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1091C>T (p.Ser364Leu) single nucleotide variant not provided [RCV002050180] Chr10:68445050 [GRCh38]
Chr10:70204807 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.677A>G (p.His226Arg) single nucleotide variant not provided [RCV002031775] Chr10:68459146 [GRCh38]
Chr10:70218903 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1897G>T (p.Ala633Ser) single nucleotide variant not provided [RCV001918064] Chr10:68431948 [GRCh38]
Chr10:70191705 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_67680088)_(71332799_?)del deletion not provided [RCV001956019] Chr10:67680088..71332799 [GRCh37]
Chr10:10q21.3-22.1		 pathogenic|uncertain significance
NM_001080449.3(DNA2):c.932G>A (p.Arg311His) single nucleotide variant not provided [RCV002016529] Chr10:68450035 [GRCh38]
Chr10:70209792 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1983+1G>T single nucleotide variant Inborn genetic diseases [RCV002547928]|not provided [RCV001870044] Chr10:68431861 [GRCh38]
Chr10:70191618 [GRCh37]
Chr10:10q21.3		 likely pathogenic|uncertain significance
NM_001080449.3(DNA2):c.712C>G (p.Leu238Val) single nucleotide variant not provided [RCV001921078] Chr10:68459111 [GRCh38]
Chr10:70218868 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2516A>C (p.Lys839Thr) single nucleotide variant not provided [RCV001976339] Chr10:68422406 [GRCh38]
Chr10:70182163 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1972A>T (p.Ile658Leu) single nucleotide variant not provided [RCV001880398] Chr10:68431873 [GRCh38]
Chr10:70191630 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.752G>A (p.Cys251Tyr) single nucleotide variant not provided [RCV001883891] Chr10:68450215 [GRCh38]
Chr10:70209972 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.653G>A (p.Cys218Tyr) single nucleotide variant not provided [RCV001960952] Chr10:68459170 [GRCh38]
Chr10:70218927 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3037C>T (p.Leu1013Phe) single nucleotide variant not provided [RCV001915641] Chr10:68416786 [GRCh38]
Chr10:70176543 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2825C>T (p.Pro942Leu) single nucleotide variant not provided [RCV002032044] Chr10:68419176 [GRCh38]
Chr10:70178933 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1037C>T (p.Ala346Val) single nucleotide variant not provided [RCV002033318] Chr10:68446316 [GRCh38]
Chr10:70206073 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2705C>T (p.Ala902Val) single nucleotide variant not provided [RCV001952421] Chr10:68419885 [GRCh38]
Chr10:70179642 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1388del (p.Asn463fs) deletion not provided [RCV002012349] Chr10:68442944 [GRCh38]
Chr10:70202701 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2362C>T (p.His788Tyr) single nucleotide variant not provided [RCV001924286] Chr10:68422737 [GRCh38]
Chr10:70182494 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1252_1257del (p.Val418_Pro419del) deletion not provided [RCV001959510] Chr10:68443075..68443080 [GRCh38]
Chr10:70202832..70202837 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.194G>A (p.Arg65His) single nucleotide variant not provided [RCV001940635] Chr10:68470044 [GRCh38]
Chr10:70229801 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1795C>T (p.Arg599Cys) single nucleotide variant Inborn genetic diseases [RCV002569241]|not provided [RCV001959348] Chr10:68432284 [GRCh38]
Chr10:70192041 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.274G>A (p.Glu92Lys) single nucleotide variant not provided [RCV001961307] Chr10:68468290 [GRCh38]
Chr10:70228047 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.720-1G>A single nucleotide variant not provided [RCV001885990] Chr10:68450248 [GRCh38]
Chr10:70210005 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1124G>T (p.Arg375Ile) single nucleotide variant not provided [RCV002019983] Chr10:68445017 [GRCh38]
Chr10:70204774 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1999G>A (p.Ala667Thr) single nucleotide variant not provided [RCV001954574] Chr10:68430645 [GRCh38]
Chr10:70190402 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1561A>G (p.Ser521Gly) single nucleotide variant not provided [RCV001866289] Chr10:68437096 [GRCh38]
Chr10:70196853 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1382A>G (p.His461Arg) single nucleotide variant not provided [RCV001901818] Chr10:68442950 [GRCh38]
Chr10:70202707 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.940-7del deletion not provided [RCV001864960] Chr10:68446420 [GRCh38]
Chr10:70206177 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2381del (p.Leu794fs) deletion not provided [RCV001956930] Chr10:68422718 [GRCh38]
Chr10:70182475 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.232G>T (p.Glu78Ter) single nucleotide variant not provided [RCV002026323] Chr10:68470006 [GRCh38]
Chr10:70229763 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.215A>G (p.Gln72Arg) single nucleotide variant not provided [RCV001902922] Chr10:68470023 [GRCh38]
Chr10:70229780 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1997A>T (p.Tyr666Phe) single nucleotide variant Inborn genetic diseases [RCV002571253]|not provided [RCV001993821] Chr10:68430647 [GRCh38]
Chr10:70190404 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2943del (p.Phe981fs) deletion not provided [RCV001902981] Chr10:68419058 [GRCh38]
Chr10:70178815 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2549C>T (p.Ser850Leu) single nucleotide variant not provided [RCV002015487] Chr10:68422373 [GRCh38]
Chr10:70182130 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1898C>T (p.Ala633Val) single nucleotide variant not provided [RCV001920831] Chr10:68431947 [GRCh38]
Chr10:70191704 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.460C>T (p.Arg154Cys) single nucleotide variant not provided [RCV001921950] Chr10:68465794 [GRCh38]
Chr10:70225551 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.193C>A (p.Arg65Ser) single nucleotide variant not provided [RCV001989637] Chr10:68470045 [GRCh38]
Chr10:70229802 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.441+13A>G single nucleotide variant not provided [RCV002205854] Chr10:68468110 [GRCh38]
Chr10:70227867 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.906C>G (p.Gly302=) single nucleotide variant not provided [RCV002145733] Chr10:68450061 [GRCh38]
Chr10:70209818 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1415+8G>A single nucleotide variant not provided [RCV002209641] Chr10:68442909 [GRCh38]
Chr10:70202666 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_001080449.3(DNA2):c.123A>T (p.Thr41=) single nucleotide variant not provided [RCV002168402] Chr10:68470115 [GRCh38]
Chr10:70229872 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2403-7T>C single nucleotide variant not provided [RCV002097546] Chr10:68422611 [GRCh38]
Chr10:70182368 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1983+15C>A single nucleotide variant not provided [RCV002074834] Chr10:68431847 [GRCh38]
Chr10:70191604 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.765C>T (p.Val255=) single nucleotide variant not provided [RCV002205347] Chr10:68450202 [GRCh38]
Chr10:70209959 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1677G>A (p.Leu559=) single nucleotide variant DNA2-related disorder [RCV003971047]|not provided [RCV002125501] Chr10:68432480 [GRCh38]
Chr10:70192237 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1873+16C>T single nucleotide variant not provided [RCV002096543] Chr10:68432190 [GRCh38]
Chr10:70191947 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2697+16_2697+18del deletion not provided [RCV002133299] Chr10:68422207..68422209 [GRCh38]
Chr10:70181964..70181966 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.108A>G (p.Arg36=) single nucleotide variant not provided [RCV002132605] Chr10:68470130 [GRCh38]
Chr10:70229887 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1659C>T (p.Val553=) single nucleotide variant not provided [RCV002195881] Chr10:68432498 [GRCh38]
Chr10:70192255 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.74+13G>T single nucleotide variant not provided [RCV002171507] Chr10:68471778 [GRCh38]
Chr10:70231535 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2787+16C>T single nucleotide variant not provided [RCV002216690] Chr10:68419787 [GRCh38]
Chr10:70179544 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2697+13A>T single nucleotide variant not provided [RCV002141295] Chr10:68422212 [GRCh38]
Chr10:70181969 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.522T>C (p.Phe174=) single nucleotide variant not provided [RCV002183322] Chr10:68465732 [GRCh38]
Chr10:70225489 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1932A>G (p.Thr644=) single nucleotide variant not provided [RCV002137879] Chr10:68431913 [GRCh38]
Chr10:70191670 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2697+14T>A single nucleotide variant not provided [RCV002155941] Chr10:68422211 [GRCh38]
Chr10:70181968 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2697+13dup duplication not provided [RCV002118619] Chr10:68422211..68422212 [GRCh38]
Chr10:70181968..70181969 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.75-9G>A single nucleotide variant not provided [RCV002157067] Chr10:68470172 [GRCh38]
Chr10:70229929 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1057+8C>T single nucleotide variant not provided [RCV002141635] Chr10:68446288 [GRCh38]
Chr10:70206045 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1057+19dup duplication not provided [RCV002117874] Chr10:68446276..68446277 [GRCh38]
Chr10:70206033..70206034 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1221-13A>G single nucleotide variant not provided [RCV002143889] Chr10:68443124 [GRCh38]
Chr10:70202881 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1763+20T>G single nucleotide variant not provided [RCV002217586] Chr10:68432374 [GRCh38]
Chr10:70192131 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.479C>T (p.Thr160Met) single nucleotide variant not provided [RCV003112438] Chr10:68465775 [GRCh38]
Chr10:70225532 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1763+15G>A single nucleotide variant not provided [RCV003111858] Chr10:68432379 [GRCh38]
Chr10:70192136 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2992C>T (p.Arg998Ter) single nucleotide variant not provided [RCV003116967] Chr10:68416831 [GRCh38]
Chr10:70176588 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1469T>C (p.Ile490Thr) single nucleotide variant not provided [RCV003118474] Chr10:68437188 [GRCh38]
Chr10:70196945 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2972G>T (p.Gly991Val) single nucleotide variant not provided [RCV003121354] Chr10:68416851 [GRCh38]
Chr10:70176608 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2755C>T (p.Leu919Phe) single nucleotide variant Inborn genetic diseases [RCV004608919] Chr10:68419835 [GRCh38]
Chr10:70179592 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1061T>A (p.Leu354Ter) single nucleotide variant not specified [RCV002271807] Chr10:68445080 [GRCh38]
Chr10:70204837 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2872A>G (p.Ile958Val) single nucleotide variant Inborn genetic diseases [RCV004047509]|not provided [RCV002275480] Chr10:68419129 [GRCh38]
Chr10:70178886 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_001080449.3(DNA2):c.403C>T (p.Arg135Ter) single nucleotide variant not provided [RCV002274782] Chr10:68468161 [GRCh38]
Chr10:70227918 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1370A>G (p.Asn457Ser) single nucleotide variant not provided [RCV002293728] Chr10:68442962 [GRCh38]
Chr10:70202719 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3122A>G (p.Asp1041Gly) single nucleotide variant not provided [RCV002275865] Chr10:68415100 [GRCh38]
Chr10:70174857 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.876C>A (p.Tyr292Ter) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV002289476] Chr10:68450091 [GRCh38]
Chr10:70209848 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.974G>C (p.Arg325Thr) single nucleotide variant not provided [RCV002274721] Chr10:68446379 [GRCh38]
Chr10:70206136 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.166C>T (p.Gln56Ter) single nucleotide variant not provided [RCV002262283] Chr10:68470072 [GRCh38]
Chr10:70229829 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1410G>A (p.Ser470=) single nucleotide variant not provided [RCV002613881] Chr10:68442922 [GRCh38]
Chr10:70202679 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.237A>G (p.Leu79=) single nucleotide variant not provided [RCV002613982] Chr10:68470001 [GRCh38]
Chr10:70229758 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1763+12T>C single nucleotide variant not specified [RCV002470005] Chr10:68432382 [GRCh38]
Chr10:70192139 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1778A>G (p.Asp593Gly) single nucleotide variant not provided [RCV002464791] Chr10:68432301 [GRCh38]
Chr10:70192058 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.540A>G (p.Gln180=) single nucleotide variant not provided [RCV002681291] Chr10:68465714 [GRCh38]
Chr10:70225471 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.65C>G (p.Pro22Arg) single nucleotide variant not provided [RCV002301573] Chr10:68471800 [GRCh38]
Chr10:70231557 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2009T>G (p.Phe670Cys) single nucleotide variant not provided [RCV002301659] Chr10:68430635 [GRCh38]
Chr10:70190392 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.149T>G (p.Leu50Trp) single nucleotide variant not provided [RCV002304934] Chr10:68470089 [GRCh38]
Chr10:70229846 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2561C>T (p.Ala854Val) single nucleotide variant not provided [RCV002294979] Chr10:68422361 [GRCh38]
Chr10:70182118 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2960A>G (p.Asp987Gly) single nucleotide variant not provided [RCV002302181] Chr10:68419041 [GRCh38]
Chr10:70178798 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2269G>A (p.Asp757Asn) single nucleotide variant not provided [RCV002308802] Chr10:68422830 [GRCh38]
Chr10:70182587 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1465A>C (p.Lys489Gln) single nucleotide variant not provided [RCV002302080] Chr10:68437192 [GRCh38]
Chr10:70196949 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1643A>G (p.Asp548Gly) single nucleotide variant not provided [RCV002730920] Chr10:68437014 [GRCh38]
Chr10:70196771 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1787T>G (p.Ile596Ser) single nucleotide variant not provided [RCV002815855] Chr10:68432292 [GRCh38]
Chr10:70192049 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2114T>G (p.Val705Gly) single nucleotide variant Inborn genetic diseases [RCV002901654] Chr10:68430530 [GRCh38]
Chr10:70190287 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.922A>G (p.Ile308Val) single nucleotide variant Inborn genetic diseases [RCV004614289]|not provided [RCV002971930] Chr10:68450045 [GRCh38]
Chr10:70209802 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.318C>T (p.Asp106=) single nucleotide variant not provided [RCV002858655] Chr10:68468246 [GRCh38]
Chr10:70228003 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.442-2A>G single nucleotide variant not provided [RCV002730358] Chr10:68465814 [GRCh38]
Chr10:70225571 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2914A>G (p.Arg972Gly) single nucleotide variant not provided [RCV002995246] Chr10:68419087 [GRCh38]
Chr10:70178844 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.466A>G (p.Met156Val) single nucleotide variant not provided [RCV002751236] Chr10:68465788 [GRCh38]
Chr10:70225545 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.972A>G (p.Arg324=) single nucleotide variant not provided [RCV003013720] Chr10:68446381 [GRCh38]
Chr10:70206138 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.3050_3051del (p.Val1017fs) microsatellite not provided [RCV003014149] Chr10:68416772..68416773 [GRCh38]
Chr10:70176529..70176530 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2494A>G (p.Lys832Glu) single nucleotide variant Inborn genetic diseases [RCV002730475]|not provided [RCV002760371] Chr10:68422428 [GRCh38]
Chr10:70182185 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2977C>G (p.Leu993Val) single nucleotide variant not provided [RCV003033121] Chr10:68416846 [GRCh38]
Chr10:70176603 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2456C>T (p.Ala819Val) single nucleotide variant Inborn genetic diseases [RCV002817491]|not provided [RCV003708701] Chr10:68422551 [GRCh38]
Chr10:70182308 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3099A>G (p.Leu1033=) single nucleotide variant not provided [RCV002511632] Chr10:68416724 [GRCh38]
Chr10:70176481 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.74+12G>C single nucleotide variant not provided [RCV002771104] Chr10:68471779 [GRCh38]
Chr10:70231536 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1711dup (p.Ile571fs) duplication Rothmund-Thomson syndrome [RCV003154243]|Rothmund-Thomson syndrome, type 4 [RCV004545282]|not provided [RCV002511155] Chr10:68432445..68432446 [GRCh38]
Chr10:70192202..70192203 [GRCh37]
Chr10:10q21.3		 pathogenic|likely pathogenic
NM_001080449.3(DNA2):c.404G>C (p.Arg135Pro) single nucleotide variant not provided [RCV003016168] Chr10:68468160 [GRCh38]
Chr10:70227917 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2162del (p.Lys721fs) deletion not provided [RCV002819537] Chr10:68430482 [GRCh38]
Chr10:70190239 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2697+18del deletion not provided [RCV002863120] Chr10:68422207 [GRCh38]
Chr10:70181964 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2361C>A (p.Asp787Glu) single nucleotide variant Inborn genetic diseases [RCV002995503]|not provided [RCV002979770] Chr10:68422738 [GRCh38]
Chr10:70182495 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2379C>G (p.Pro793=) single nucleotide variant not provided [RCV002820140] Chr10:68422720 [GRCh38]
Chr10:70182477 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1544G>C (p.Gly515Ala) single nucleotide variant not provided [RCV002618752] Chr10:68437113 [GRCh38]
Chr10:70196870 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1817A>T (p.Tyr606Phe) single nucleotide variant not provided [RCV002843705] Chr10:68432262 [GRCh38]
Chr10:70192019 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2303G>T (p.Ser768Ile) single nucleotide variant Inborn genetic diseases [RCV002907133] Chr10:68422796 [GRCh38]
Chr10:70182553 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2111A>C (p.Lys704Thr) single nucleotide variant not provided [RCV002947630] Chr10:68430533 [GRCh38]
Chr10:70190290 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2196C>T (p.Leu732=) single nucleotide variant not provided [RCV002991787] Chr10:68430448 [GRCh38]
Chr10:70190205 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.869C>T (p.Thr290Ile) single nucleotide variant Inborn genetic diseases [RCV002734304]|not specified [RCV003994519] Chr10:68450098 [GRCh38]
Chr10:70209855 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.74+7_74+9delinsCTT indel not provided [RCV002511633] Chr10:68471782..68471784 [GRCh38]
Chr10:70231539..70231541 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1416-4A>G single nucleotide variant not provided [RCV002862101] Chr10:68437245 [GRCh38]
Chr10:70197002 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.389T>C (p.Ile130Thr) single nucleotide variant not provided [RCV002995535] Chr10:68468175 [GRCh38]
Chr10:70227932 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1764-14T>G single nucleotide variant not provided [RCV002861950] Chr10:68432329 [GRCh38]
Chr10:70192086 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.732T>C (p.Asn244=) single nucleotide variant not provided [RCV003012270] Chr10:68450235 [GRCh38]
Chr10:70209992 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1057+10T>G single nucleotide variant not provided [RCV003016027] Chr10:68446286 [GRCh38]
Chr10:70206043 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1764-17G>C single nucleotide variant not provided [RCV003014908] Chr10:68432332 [GRCh38]
Chr10:70192089 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2554A>G (p.Lys852Glu) single nucleotide variant not provided [RCV002686127] Chr10:68422368 [GRCh38]
Chr10:70182125 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2391C>A (p.Asn797Lys) single nucleotide variant Inborn genetic diseases [RCV002754503]|not provided [RCV003778634] Chr10:68422708 [GRCh38]
Chr10:70182465 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1392C>A (p.Ile464=) single nucleotide variant not provided [RCV002815621] Chr10:68442940 [GRCh38]
Chr10:70202697 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2278_2279del (p.Ile760fs) deletion not provided [RCV002881883] Chr10:68422820..68422821 [GRCh38]
Chr10:70182577..70182578 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2402+1G>A single nucleotide variant Inborn genetic diseases [RCV002979769]|not provided [RCV002995502] Chr10:68422696 [GRCh38]
Chr10:70182453 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1110C>T (p.Ser370=) single nucleotide variant not provided [RCV003014205] Chr10:68445031 [GRCh38]
Chr10:70204788 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.514A>C (p.Asn172His) single nucleotide variant not provided [RCV003032309] Chr10:68465740 [GRCh38]
Chr10:70225497 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2099G>A (p.Gly700Asp) single nucleotide variant not provided [RCV002617610] Chr10:68430545 [GRCh38]
Chr10:70190302 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2330T>G (p.Phe777Cys) single nucleotide variant not provided [RCV003034869] Chr10:68422769 [GRCh38]
Chr10:70182526 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2620G>A (p.Ala874Thr) single nucleotide variant Inborn genetic diseases [RCV004612212]|not provided [RCV002618381] Chr10:68422302 [GRCh38]
Chr10:70182059 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2752A>G (p.Lys918Glu) single nucleotide variant Inborn genetic diseases [RCV003076717]|not provided [RCV003062703] Chr10:68419838 [GRCh38]
Chr10:70179595 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1057+15T>C single nucleotide variant not provided [RCV003033423] Chr10:68446281 [GRCh38]
Chr10:70206038 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.74+13G>A single nucleotide variant not provided [RCV002614357] Chr10:68471778 [GRCh38]
Chr10:70231535 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1984-9C>T single nucleotide variant not provided [RCV002882221] Chr10:68430669 [GRCh38]
Chr10:70190426 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.952A>C (p.Thr318Pro) single nucleotide variant not provided [RCV002862153] Chr10:68446401 [GRCh38]
Chr10:70206158 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.398G>A (p.Ser133Asn) single nucleotide variant Inborn genetic diseases [RCV003038770]|not provided [RCV003038769] Chr10:68468166 [GRCh38]
Chr10:70227923 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.982C>G (p.Pro328Ala) single nucleotide variant not provided [RCV003081661] Chr10:68446371 [GRCh38]
Chr10:70206128 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2824C>T (p.Pro942Ser) single nucleotide variant not provided [RCV003018808] Chr10:68419177 [GRCh38]
Chr10:70178934 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2470A>G (p.Thr824Ala) single nucleotide variant not provided [RCV002926961] Chr10:68422537 [GRCh38]
Chr10:70182294 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2581C>T (p.Arg861Cys) single nucleotide variant Inborn genetic diseases [RCV004064735]|not provided [RCV002786074] Chr10:68422341 [GRCh38]
Chr10:70182098 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1372A>G (p.Lys458Glu) single nucleotide variant not provided [RCV002638951] Chr10:68442960 [GRCh38]
Chr10:70202717 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2582G>A (p.Arg861His) single nucleotide variant Inborn genetic diseases [RCV002622267]|not provided [RCV002622268] Chr10:68422340 [GRCh38]
Chr10:70182097 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1221-15G>A single nucleotide variant not provided [RCV003054166] Chr10:68443126 [GRCh38]
Chr10:70202883 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.257+3A>G single nucleotide variant not provided [RCV002690557] Chr10:68469978 [GRCh38]
Chr10:70229735 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1291C>T (p.Gln431Ter) single nucleotide variant not provided [RCV002760339] Chr10:68443041 [GRCh38]
Chr10:70202798 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.74+9A>G single nucleotide variant not provided [RCV002820416] Chr10:68471782 [GRCh38]
Chr10:70231539 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2208+12T>A single nucleotide variant not provided [RCV002638634] Chr10:68430424 [GRCh38]
Chr10:70190181 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.3114+11dup duplication not provided [RCV002621866] Chr10:68416697..68416698 [GRCh38]
Chr10:70176454..70176455 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.243C>G (p.Ile81Met) single nucleotide variant not provided [RCV003054218] Chr10:68469995 [GRCh38]
Chr10:70229752 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2403-10T>C single nucleotide variant not provided [RCV002820762] Chr10:68422614 [GRCh38]
Chr10:70182371 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2208+18A>G single nucleotide variant not provided [RCV002570172] Chr10:68430418 [GRCh38]
Chr10:70190175 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2971G>A (p.Gly991Ser) single nucleotide variant not provided [RCV002949325] Chr10:68416852 [GRCh38]
Chr10:70176609 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1999G>T (p.Ala667Ser) single nucleotide variant Inborn genetic diseases [RCV002821722] Chr10:68430645 [GRCh38]
Chr10:70190402 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2218G>A (p.Ala740Thr) single nucleotide variant not provided [RCV003035986] Chr10:68422881 [GRCh38]
Chr10:70182638 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2522C>T (p.Thr841Ile) single nucleotide variant Inborn genetic diseases [RCV002757130]|not provided [RCV003708699] Chr10:68422400 [GRCh38]
Chr10:70182157 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.587+11A>G single nucleotide variant not provided [RCV002636979] Chr10:68465656 [GRCh38]
Chr10:70225413 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2582G>C (p.Arg861Pro) single nucleotide variant not provided [RCV003036872] Chr10:68422340 [GRCh38]
Chr10:70182097 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2918A>G (p.Asp973Gly) single nucleotide variant not provided [RCV003020031] Chr10:68419083 [GRCh38]
Chr10:70178840 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1415+3A>C single nucleotide variant not provided [RCV003018556] Chr10:68442914 [GRCh38]
Chr10:70202671 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2209-14T>A single nucleotide variant not provided [RCV002885347] Chr10:68422904 [GRCh38]
Chr10:70182661 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2698-18G>A single nucleotide variant not provided [RCV002695040] Chr10:68419910 [GRCh38]
Chr10:70179667 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2605G>A (p.Glu869Lys) single nucleotide variant not provided [RCV002622363] Chr10:68422317 [GRCh38]
Chr10:70182074 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.587+17A>G single nucleotide variant not provided [RCV002639901] Chr10:68465650 [GRCh38]
Chr10:70225407 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.587+12T>C single nucleotide variant not provided [RCV002590986] Chr10:68465655 [GRCh38]
Chr10:70225412 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.388A>G (p.Ile130Val) single nucleotide variant Inborn genetic diseases [RCV002822518] Chr10:68468176 [GRCh38]
Chr10:70227933 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1543G>A (p.Gly515Ser) single nucleotide variant Inborn genetic diseases [RCV002823169] Chr10:68437114 [GRCh38]
Chr10:70196871 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1656G>A (p.Ser552=) single nucleotide variant not provided [RCV002619933] Chr10:68432501 [GRCh38]
Chr10:70192258 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1873+19G>T single nucleotide variant not provided [RCV003038565] Chr10:68432187 [GRCh38]
Chr10:70191944 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1558G>C (p.Val520Leu) single nucleotide variant not provided [RCV003080774] Chr10:68437099 [GRCh38]
Chr10:70196856 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1193A>C (p.Gln398Pro) single nucleotide variant not provided [RCV002927229] Chr10:68444948 [GRCh38]
Chr10:70204705 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3062A>G (p.Asn1021Ser) single nucleotide variant not provided [RCV002912780] Chr10:68416761 [GRCh38]
Chr10:70176518 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2258G>A (p.Arg753His) single nucleotide variant Inborn genetic diseases [RCV004073363]|not provided [RCV002574538] Chr10:68422841 [GRCh38]
Chr10:70182598 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.648G>A (p.Ser216=) single nucleotide variant not provided [RCV002626145] Chr10:68459175 [GRCh38]
Chr10:70218932 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2175C>G (p.Ser725=) single nucleotide variant not provided [RCV002642587] Chr10:68430469 [GRCh38]
Chr10:70190226 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.442-10G>T single nucleotide variant not provided [RCV002597153] Chr10:68465822 [GRCh38]
Chr10:70225579 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.644C>T (p.Pro215Leu) single nucleotide variant not provided [RCV003023437] Chr10:68459179 [GRCh38]
Chr10:70218936 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2101C>G (p.Gln701Glu) single nucleotide variant not provided [RCV002595641] Chr10:68430543 [GRCh38]
Chr10:70190300 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.910G>A (p.Glu304Lys) single nucleotide variant not provided [RCV003024001] Chr10:68450057 [GRCh38]
Chr10:70209814 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1938C>T (p.Ile646=) single nucleotide variant not provided [RCV002626851] Chr10:68431907 [GRCh38]
Chr10:70191664 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1646+11G>A single nucleotide variant not provided [RCV002790610] Chr10:68437000 [GRCh38]
Chr10:70196757 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1326C>T (p.Ser442=) single nucleotide variant not provided [RCV002645786] Chr10:68443006 [GRCh38]
Chr10:70202763 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1860C>G (p.Ala620=) single nucleotide variant not provided [RCV002853221] Chr10:68432219 [GRCh38]
Chr10:70191976 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2627A>G (p.Tyr876Cys) single nucleotide variant not provided [RCV002894283] Chr10:68422295 [GRCh38]
Chr10:70182052 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.952A>G (p.Thr318Ala) single nucleotide variant not provided [RCV003022706] Chr10:68446401 [GRCh38]
Chr10:70206158 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1487A>G (p.Tyr496Cys) single nucleotide variant not provided [RCV002933045] Chr10:68437170 [GRCh38]
Chr10:70196927 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2000C>A (p.Ala667Asp) single nucleotide variant not provided [RCV002958279] Chr10:68430644 [GRCh38]
Chr10:70190401 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2118T>C (p.His706=) single nucleotide variant not provided [RCV002597271] Chr10:68430526 [GRCh38]
Chr10:70190283 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2453G>T (p.Ser818Ile) single nucleotide variant Inborn genetic diseases [RCV002767168] Chr10:68422554 [GRCh38]
Chr10:70182311 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2965A>G (p.Thr989Ala) single nucleotide variant not provided [RCV002958897] Chr10:68419036 [GRCh38]
Chr10:70178793 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1816T>C (p.Tyr606His) single nucleotide variant not provided [RCV002741011] Chr10:68432263 [GRCh38]
Chr10:70192020 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.305A>T (p.Asp102Val) single nucleotide variant not provided [RCV002851162] Chr10:68468259 [GRCh38]
Chr10:70228016 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2335dup (p.Ser779fs) duplication not provided [RCV002643732] Chr10:68422763..68422764 [GRCh38]
Chr10:70182520..70182521 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2335del (p.Ser779fs) deletion not provided [RCV002917260] Chr10:68422764 [GRCh38]
Chr10:70182521 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2343A>G (p.Arg781=) single nucleotide variant not provided [RCV002890304] Chr10:68422756 [GRCh38]
Chr10:70182513 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2767C>T (p.Leu923=) single nucleotide variant not provided [RCV002954235] Chr10:68419823 [GRCh38]
Chr10:70179580 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1865T>C (p.Ile622Thr) single nucleotide variant not provided [RCV002766500] Chr10:68432214 [GRCh38]
Chr10:70191971 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2129A>G (p.Gln710Arg) single nucleotide variant not provided [RCV002626018] Chr10:68430515 [GRCh38]
Chr10:70190272 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.441+9T>C single nucleotide variant not provided [RCV002710311] Chr10:68468114 [GRCh38]
Chr10:70227871 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1763+11A>G single nucleotide variant not provided [RCV002572385] Chr10:68432383 [GRCh38]
Chr10:70192140 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.879G>C (p.Lys293Asn) single nucleotide variant not provided [RCV002574324] Chr10:68450088 [GRCh38]
Chr10:70209845 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2866C>T (p.Arg956Cys) single nucleotide variant not provided [RCV003082546] Chr10:68419135 [GRCh38]
Chr10:70178892 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.940-17T>C single nucleotide variant not provided [RCV002790886] Chr10:68446430 [GRCh38]
Chr10:70206187 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.3111A>G (p.Lys1037=) single nucleotide variant not provided [RCV002801155] Chr10:68416712 [GRCh38]
Chr10:70176469 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2957A>G (p.Lys986Arg) single nucleotide variant not provided [RCV003023791] Chr10:68419044 [GRCh38]
Chr10:70178801 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.588-11A>G single nucleotide variant not provided [RCV003042299] Chr10:68459246 [GRCh38]
Chr10:70219003 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.940-1G>T single nucleotide variant not provided [RCV002830139] Chr10:68446414 [GRCh38]
Chr10:70206171 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.831T>C (p.Asp277=) single nucleotide variant DNA2-related disorder [RCV003898509]|not provided [RCV002740724] Chr10:68450136 [GRCh38]
Chr10:70209893 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.76T>G (p.Phe26Val) single nucleotide variant not provided [RCV003056016] Chr10:68470162 [GRCh38]
Chr10:70229919 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2697+16T>C single nucleotide variant not provided [RCV002596699] Chr10:68422209 [GRCh38]
Chr10:70181966 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2959G>A (p.Asp987Asn) single nucleotide variant not provided [RCV002626158] Chr10:68419042 [GRCh38]
Chr10:70178799 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.442-20TG[2] microsatellite not provided [RCV003042445] Chr10:68465827..68465828 [GRCh38]
Chr10:70225584..70225585 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.441+5A>G single nucleotide variant not provided [RCV002626551] Chr10:68468118 [GRCh38]
Chr10:70227875 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1058-5del deletion not provided [RCV003058664] Chr10:68445088 [GRCh38]
Chr10:70204845 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.177G>A (p.Glu59=) single nucleotide variant not provided [RCV002701124] Chr10:68470061 [GRCh38]
Chr10:70229818 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1346C>T (p.Thr449Ile) single nucleotide variant not provided [RCV002595650] Chr10:68442986 [GRCh38]
Chr10:70202743 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.404G>A (p.Arg135Gln) single nucleotide variant not provided [RCV002625839] Chr10:68468160 [GRCh38]
Chr10:70227917 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1057+18_1057+19dup duplication not provided [RCV002663205] Chr10:68446276..68446277 [GRCh38]
Chr10:70206033..70206034 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.2392C>T (p.Arg798Cys) single nucleotide variant not provided [RCV002663742] Chr10:68422707 [GRCh38]
Chr10:70182464 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2204G>T (p.Ser735Ile) single nucleotide variant not provided [RCV003005053] Chr10:68430440 [GRCh38]
Chr10:70190197 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2222C>T (p.Thr741Ile) single nucleotide variant not provided [RCV002710641] Chr10:68422877 [GRCh38]
Chr10:70182634 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.940-12A>G single nucleotide variant not provided [RCV002626618] Chr10:68446425 [GRCh38]
Chr10:70206182 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.647C>T (p.Ser216Leu) single nucleotide variant not provided [RCV003085182] Chr10:68459176 [GRCh38]
Chr10:70218933 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2964A>C (p.Gly988=) single nucleotide variant not provided [RCV002601601] Chr10:68419037 [GRCh38]
Chr10:70178794 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2217T>A (p.Val739=) single nucleotide variant not provided [RCV002646006] Chr10:68422882 [GRCh38]
Chr10:70182639 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.74+11del deletion not provided [RCV002630988] Chr10:68471780 [GRCh38]
Chr10:70231537 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1057+9G>A single nucleotide variant DNA2-related disorder [RCV003936609]|not provided [RCV002647231] Chr10:68446287 [GRCh38]
Chr10:70206044 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.3091A>G (p.Asn1031Asp) single nucleotide variant not provided [RCV002812015] Chr10:68416732 [GRCh38]
Chr10:70176489 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1100A>G (p.His367Arg) single nucleotide variant not provided [RCV002577375] Chr10:68445041 [GRCh38]
Chr10:70204798 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.158A>G (p.Asn53Ser) single nucleotide variant not provided [RCV002963316] Chr10:68470080 [GRCh38]
Chr10:70229837 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1058-4A>G single nucleotide variant not provided [RCV002720917] Chr10:68445087 [GRCh38]
Chr10:70204844 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2120C>T (p.Pro707Leu) single nucleotide variant not provided [RCV002676157] Chr10:68430524 [GRCh38]
Chr10:70190281 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2513A>G (p.Asn838Ser) single nucleotide variant not provided [RCV002627924] Chr10:68422409 [GRCh38]
Chr10:70182166 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1228G>A (p.Glu410Lys) single nucleotide variant not provided [RCV002720790] Chr10:68443104 [GRCh38]
Chr10:70202861 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2377C>G (p.Pro793Ala) single nucleotide variant not provided [RCV002720759] Chr10:68422722 [GRCh38]
Chr10:70182479 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2472C>T (p.Thr824=) single nucleotide variant not provided [RCV002632279] Chr10:68422535 [GRCh38]
Chr10:70182292 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.897T>G (p.Leu299=) single nucleotide variant not provided [RCV002962479] Chr10:68450070 [GRCh38]
Chr10:70209827 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.231A>G (p.Lys77=) single nucleotide variant not provided [RCV003044387] Chr10:68470007 [GRCh38]
Chr10:70229764 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.3007G>T (p.Ala1003Ser) single nucleotide variant not provided [RCV002598037] Chr10:68416816 [GRCh38]
Chr10:70176573 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3070C>T (p.Pro1024Ser) single nucleotide variant not provided [RCV002628624] Chr10:68416753 [GRCh38]
Chr10:70176510 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2883C>A (p.Val961=) single nucleotide variant not provided [RCV002598386] Chr10:68419118 [GRCh38]
Chr10:70178875 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1741T>C (p.Leu581=) single nucleotide variant not provided [RCV002598438] Chr10:68432416 [GRCh38]
Chr10:70192173 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1675T>G (p.Leu559Val) single nucleotide variant not provided [RCV003060348] Chr10:68432482 [GRCh38]
Chr10:70192239 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.672C>T (p.Phe224=) single nucleotide variant not provided [RCV003008948] Chr10:68459151 [GRCh38]
Chr10:70218908 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2492+7G>A single nucleotide variant not provided [RCV003044173] Chr10:68422508 [GRCh38]
Chr10:70182265 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1722A>G (p.Pro574=) single nucleotide variant not provided [RCV003047001] Chr10:68432435 [GRCh38]
Chr10:70192192 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2325C>T (p.Pro775=) single nucleotide variant not provided [RCV003008388] Chr10:68422774 [GRCh38]
Chr10:70182531 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2338C>T (p.Arg780Trp) single nucleotide variant not provided [RCV002627659] Chr10:68422761 [GRCh38]
Chr10:70182518 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2820T>C (p.Ile940=) single nucleotide variant not provided [RCV002833952] Chr10:68419181 [GRCh38]
Chr10:70178938 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.720G>A (p.Leu240=) single nucleotide variant not provided [RCV002716185] Chr10:68450247 [GRCh38]
Chr10:70210004 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2967+16T>C single nucleotide variant not provided [RCV002746748] Chr10:68419018 [GRCh38]
Chr10:70178775 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2596G>A (p.Val866Met) single nucleotide variant not provided [RCV002601102] Chr10:68422326 [GRCh38]
Chr10:70182083 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.104C>A (p.Pro35Gln) single nucleotide variant not provided [RCV003030370] Chr10:68470134 [GRCh38]
Chr10:70229891 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1101C>A (p.His367Gln) single nucleotide variant Inborn genetic diseases [RCV002702545] Chr10:68445040 [GRCh38]
Chr10:70204797 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2213T>C (p.Ile738Thr) single nucleotide variant not provided [RCV003030677] Chr10:68422886 [GRCh38]
Chr10:70182643 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3161del (p.Leu1054fs) deletion not provided [RCV003026699] Chr10:68415061 [GRCh38]
Chr10:70174818 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2857T>A (p.Leu953Ile) single nucleotide variant not provided [RCV002650768] Chr10:68419144 [GRCh38]
Chr10:70178901 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1757T>C (p.Phe586Ser) single nucleotide variant not provided [RCV002600337] Chr10:68432400 [GRCh38]
Chr10:70192157 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1647-18T>C single nucleotide variant not provided [RCV002810631] Chr10:68432528 [GRCh38]
Chr10:70192285 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.919T>A (p.Ser307Thr) single nucleotide variant not provided [RCV003061250] Chr10:68450048 [GRCh38]
Chr10:70209805 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.678T>G (p.His226Gln) single nucleotide variant not provided [RCV002577646] Chr10:68459145 [GRCh38]
Chr10:70218902 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2384T>G (p.Val795Gly) single nucleotide variant not provided [RCV002631624] Chr10:68422715 [GRCh38]
Chr10:70182472 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1952G>A (p.Gly651Glu) single nucleotide variant not provided [RCV002811144] Chr10:68431893 [GRCh38]
Chr10:70191650 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.59A>G (p.Glu20Gly) single nucleotide variant not provided [RCV003030039] Chr10:68471806 [GRCh38]
Chr10:70231563 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1080G>A (p.Gln360=) single nucleotide variant not provided [RCV002671585] Chr10:68445061 [GRCh38]
Chr10:70204818 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1220+13T>C single nucleotide variant not provided [RCV002578663] Chr10:68444908 [GRCh38]
Chr10:70204665 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.839T>C (p.Val280Ala) single nucleotide variant not provided [RCV002675910] Chr10:68450128 [GRCh38]
Chr10:70209885 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.689C>T (p.Ser230Leu) single nucleotide variant not provided [RCV002597583] Chr10:68459134 [GRCh38]
Chr10:70218891 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2314T>G (p.Cys772Gly) single nucleotide variant not provided [RCV002714986] Chr10:68422785 [GRCh38]
Chr10:70182542 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.377C>A (p.Ser126Tyr) single nucleotide variant not provided [RCV002646542] Chr10:68468187 [GRCh38]
Chr10:70227944 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2902A>G (p.Lys968Glu) single nucleotide variant not provided [RCV002581432] Chr10:68419099 [GRCh38]
Chr10:70178856 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1998C>T (p.Tyr666=) single nucleotide variant not provided [RCV002672122] Chr10:68430646 [GRCh38]
Chr10:70190403 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.6G>A (p.Glu2=) single nucleotide variant not provided [RCV002578805] Chr10:68471859 [GRCh38]
Chr10:70231616 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.486C>T (p.Leu162=) single nucleotide variant not provided [RCV002578434] Chr10:68465768 [GRCh38]
Chr10:70225525 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.758T>C (p.Ile253Thr) single nucleotide variant not provided [RCV002631281] Chr10:68450209 [GRCh38]
Chr10:70209966 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1646+9A>G single nucleotide variant not provided [RCV002579403] Chr10:68437002 [GRCh38]
Chr10:70196759 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.854A>G (p.His285Arg) single nucleotide variant not provided [RCV002671157] Chr10:68450113 [GRCh38]
Chr10:70209870 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1223C>T (p.Ala408Val) single nucleotide variant not provided [RCV002922989] Chr10:68443109 [GRCh38]
Chr10:70202866 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2630C>A (p.Ser877Tyr) single nucleotide variant Inborn genetic diseases [RCV004070635]|not provided [RCV002633217] Chr10:68422292 [GRCh38]
Chr10:70182049 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.74+17G>T single nucleotide variant not provided [RCV003052080] Chr10:68471774 [GRCh38]
Chr10:70231531 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1208C>T (p.Ala403Val) single nucleotide variant not provided [RCV003032172] Chr10:68444933 [GRCh38]
Chr10:70204690 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.719+11C>T single nucleotide variant not provided [RCV002605530] Chr10:68459093 [GRCh38]
Chr10:70218850 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2355G>T (p.Val785=) single nucleotide variant not provided [RCV002653580] Chr10:68422744 [GRCh38]
Chr10:70182501 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2891A>G (p.Asn964Ser) single nucleotide variant not provided [RCV002681011] Chr10:68419110 [GRCh38]
Chr10:70178867 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.43T>A (p.Phe15Ile) single nucleotide variant not provided [RCV002583179] Chr10:68471822 [GRCh38]
Chr10:70231579 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2493-5C>T single nucleotide variant not provided [RCV002634931] Chr10:68422434 [GRCh38]
Chr10:70182191 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.75-13G>A single nucleotide variant not provided [RCV002604125] Chr10:68470176 [GRCh38]
Chr10:70229933 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.228T>A (p.Asn76Lys) single nucleotide variant not provided [RCV002654437] Chr10:68470010 [GRCh38]
Chr10:70229767 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2185C>G (p.Leu729Val) single nucleotide variant not provided [RCV002676724] Chr10:68430459 [GRCh38]
Chr10:70190216 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1703A>G (p.Asn568Ser) single nucleotide variant Inborn genetic diseases [RCV002723435] Chr10:68432454 [GRCh38]
Chr10:70192211 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.280G>A (p.Gly94Arg) single nucleotide variant not provided [RCV002721444] Chr10:68468284 [GRCh38]
Chr10:70228041 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.385A>G (p.Ser129Gly) single nucleotide variant Inborn genetic diseases [RCV002679691]|not provided [RCV003778563] Chr10:68468179 [GRCh38]
Chr10:70227936 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.588-16A>G single nucleotide variant not provided [RCV002586658] Chr10:68459251 [GRCh38]
Chr10:70219008 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.265G>C (p.Val89Leu) single nucleotide variant not provided [RCV002943613] Chr10:68468299 [GRCh38]
Chr10:70228056 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2565T>A (p.Asn855Lys) single nucleotide variant not provided [RCV003071696] Chr10:68422357 [GRCh38]
Chr10:70182114 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.963C>T (p.Ser321=) single nucleotide variant not provided [RCV002590050] Chr10:68446390 [GRCh38]
Chr10:70206147 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1983C>T (p.Leu661=) single nucleotide variant not provided [RCV003072174] Chr10:68431862 [GRCh38]
Chr10:70191619 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2664del (p.Asn889fs) deletion not provided [RCV002607962] Chr10:68422258 [GRCh38]
Chr10:70182015 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2235A>G (p.Gly745=) single nucleotide variant not provided [RCV002610744] Chr10:68422864 [GRCh38]
Chr10:70182621 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1221-8A>G single nucleotide variant not provided [RCV002610797] Chr10:68443119 [GRCh38]
Chr10:70202876 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1900A>G (p.Met634Val) single nucleotide variant not provided [RCV002582894] Chr10:68431945 [GRCh38]
Chr10:70191702 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.103C>A (p.Pro35Thr) single nucleotide variant not provided [RCV002609133] Chr10:68470135 [GRCh38]
Chr10:70229892 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1755G>A (p.Thr585=) single nucleotide variant not provided [RCV002586681] Chr10:68432402 [GRCh38]
Chr10:70192159 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1032G>T (p.Val344=) single nucleotide variant not provided [RCV002814597] Chr10:68446321 [GRCh38]
Chr10:70206078 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1428C>T (p.Gly476=) single nucleotide variant not provided [RCV003071872] Chr10:68437229 [GRCh38]
Chr10:70196986 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.588-2214A>G single nucleotide variant Rothmund-Thomson syndrome [RCV003154066]|Rothmund-Thomson syndrome, type 4 [RCV004545280] Chr10:68461449 [GRCh38]
Chr10:70221206 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro) single nucleotide variant Rothmund-Thomson syndrome [RCV003154242]|Rothmund-Thomson syndrome, type 4 [RCV004545281] Chr10:68470095 [GRCh38]
Chr10:70229852 [GRCh37]
Chr10:10q21.3		 pathogenic|likely pathogenic
NC_000010.11:g.68413754_68420303del deletion Rothmund-Thomson syndrome [RCV003154244]|Rothmund-Thomson syndrome, type 4 [RCV004545283] Chr10:68413707..68420256 [GRCh38]
Chr10:70173464..70180013 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_001080449.3(DNA2):c.2621C>T (p.Ala874Val) single nucleotide variant Inborn genetic diseases [RCV003201195]|not provided [RCV003779735] Chr10:68422301 [GRCh38]
Chr10:70182058 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1388A>G (p.Asn463Ser) single nucleotide variant not provided [RCV003146192] Chr10:68442944 [GRCh38]
Chr10:70202701 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.271G>C (p.Val91Leu) single nucleotide variant Inborn genetic diseases [RCV003199809] Chr10:68468293 [GRCh38]
Chr10:70228050 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.731dup (p.Asn244fs) duplication not provided [RCV003146193] Chr10:68450235..68450236 [GRCh38]
Chr10:70209992..70209993 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.85A>G (p.Lys29Glu) single nucleotide variant Inborn genetic diseases [RCV003217764] Chr10:68470153 [GRCh38]
Chr10:70229910 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1294C>T (p.His432Tyr) single nucleotide variant Inborn genetic diseases [RCV003191952] Chr10:68443038 [GRCh38]
Chr10:70202795 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1288A>G (p.Thr430Ala) single nucleotide variant Inborn genetic diseases [RCV004608918] Chr10:68443044 [GRCh38]
Chr10:70202801 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2189A>C (p.Glu730Ala) single nucleotide variant Inborn genetic diseases [RCV004608920] Chr10:68430455 [GRCh38]
Chr10:70190212 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1429A>T (p.Ser477Cys) single nucleotide variant not provided [RCV003322011] Chr10:68437228 [GRCh38]
Chr10:70196985 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_001080449.3(DNA2):c.1244del (p.Cys415fs) deletion not provided [RCV003326790] Chr10:68443088 [GRCh38]
Chr10:70202845 [GRCh37]
Chr10:10q21.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000010.10:g.(70196999_70202673)_(70231731_?)dup duplication not specified [RCV003331914] Chr10:70202673..70231731 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2776A>G (p.Ile926Val) single nucleotide variant Inborn genetic diseases [RCV003383250] Chr10:68419814 [GRCh38]
Chr10:70179571 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1266G>A (p.Met422Ile) single nucleotide variant not provided [RCV003570123] Chr10:68443066 [GRCh38]
Chr10:70202823 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1202A>G (p.Asn401Ser) single nucleotide variant not provided [RCV003874311] Chr10:68444939 [GRCh38]
Chr10:70204696 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1233A>G (p.Gln411=) single nucleotide variant not provided [RCV003712541] Chr10:68443099 [GRCh38]
Chr10:70202856 [GRCh37]
Chr10:10q21.3		 likely benign
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1 copy number loss not provided [RCV003483092] Chr10:51735638..70791246 [GRCh37]
Chr10:10q11.23-22.1		 pathogenic
NM_001080449.3(DNA2):c.3117C>A (p.Ile1039=) single nucleotide variant not provided [RCV003543553] Chr10:68415105 [GRCh38]
Chr10:70174862 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1920A>C (p.Ser640=) single nucleotide variant not provided [RCV003571671] Chr10:68431925 [GRCh38]
Chr10:70191682 [GRCh37]
Chr10:10q21.3		 likely benign
NC_000010.10:g.(?_70173820)_(70231731_?)dup duplication not specified [RCV003479618] Chr10:70173820..70231731 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_001080449.3(DNA2):c.74+12G>A single nucleotide variant not provided [RCV003778355]|not specified [RCV003405011] Chr10:68471779 [GRCh38]
Chr10:70231536 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1486T>C (p.Tyr496His) single nucleotide variant DNA2-related disorder [RCV003397262]|not provided [RCV003778174] Chr10:68437171 [GRCh38]
Chr10:70196928 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1655C>T (p.Ser552Leu) single nucleotide variant DNA2-related disorder [RCV003408464]|not provided [RCV003689083] Chr10:68432502 [GRCh38]
Chr10:70192259 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.939+2T>C single nucleotide variant DNA2-related disorder [RCV003399920] Chr10:68450026 [GRCh38]
Chr10:70209783 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.720-9T>G single nucleotide variant not specified [RCV003405010] Chr10:68450256 [GRCh38]
Chr10:70210013 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1943G>A (p.Gly648Asp) single nucleotide variant DNA2-related disorder [RCV003410563] Chr10:68431902 [GRCh38]
Chr10:70191659 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1462G>A (p.Val488Ile) single nucleotide variant Mitochondrial DNA deletion syndrome with progressive myopathy [RCV003389108] Chr10:68437195 [GRCh38]
Chr10:70196952 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1058-6T>C single nucleotide variant not provided [RCV003831590] Chr10:68445089 [GRCh38]
Chr10:70204846 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1757T>G (p.Phe586Cys) single nucleotide variant not provided [RCV003831580] Chr10:68432400 [GRCh38]
Chr10:70192157 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.75-14T>C single nucleotide variant not provided [RCV003547213] Chr10:68470177 [GRCh38]
Chr10:70229934 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1673C>G (p.Thr558Ser) single nucleotide variant not provided [RCV003713805] Chr10:68432484 [GRCh38]
Chr10:70192241 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.461G>A (p.Arg154His) single nucleotide variant not provided [RCV003575889] Chr10:68465793 [GRCh38]
Chr10:70225550 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1220+7A>T single nucleotide variant not provided [RCV003880052] Chr10:68444914 [GRCh38]
Chr10:70204671 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2160A>G (p.Ser720=) single nucleotide variant not provided [RCV003545560] Chr10:68430484 [GRCh38]
Chr10:70190241 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.3115-19C>T single nucleotide variant not provided [RCV003713607] Chr10:68415126 [GRCh38]
Chr10:70174883 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.442-19G>A single nucleotide variant not provided [RCV003826615] Chr10:68465831 [GRCh38]
Chr10:70225588 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2208+11T>C single nucleotide variant not provided [RCV003659764] Chr10:68430425 [GRCh38]
Chr10:70190182 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.325A>G (p.Ile109Val) single nucleotide variant not provided [RCV003878266] Chr10:68468239 [GRCh38]
Chr10:70227996 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.393C>G (p.Ala131=) single nucleotide variant not provided [RCV003830556] Chr10:68468171 [GRCh38]
Chr10:70227928 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.648G>T (p.Ser216=) single nucleotide variant not provided [RCV003547226] Chr10:68459175 [GRCh38]
Chr10:70218932 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1874-12A>G single nucleotide variant not provided [RCV003830522] Chr10:68431983 [GRCh38]
Chr10:70191740 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1057+10T>C single nucleotide variant not provided [RCV003546320] Chr10:68446286 [GRCh38]
Chr10:70206043 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.587T>C (p.Met196Thr) single nucleotide variant not provided [RCV003694746] Chr10:68465667 [GRCh38]
Chr10:70225424 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2322C>T (p.Gly774=) single nucleotide variant not provided [RCV003695603] Chr10:68422777 [GRCh38]
Chr10:70182534 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2392C>A (p.Arg798Ser) single nucleotide variant not provided [RCV003689887] Chr10:68422707 [GRCh38]
Chr10:70182464 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.845T>C (p.Val282Ala) single nucleotide variant not provided [RCV003828439] Chr10:68450122 [GRCh38]
Chr10:70209879 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.792C>T (p.Ser264=) single nucleotide variant not provided [RCV003687178] Chr10:68450175 [GRCh38]
Chr10:70209932 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1258A>G (p.Ile420Val) single nucleotide variant not provided [RCV003881530] Chr10:68443074 [GRCh38]
Chr10:70202831 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2661A>G (p.Glu887=) single nucleotide variant not provided [RCV003578468] Chr10:68422261 [GRCh38]
Chr10:70182018 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1874-14G>C single nucleotide variant not provided [RCV003543879] Chr10:68431985 [GRCh38]
Chr10:70191742 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2698-20C>G single nucleotide variant not provided [RCV003669440]|not specified [RCV003489677] Chr10:68419912 [GRCh38]
Chr10:70179669 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1457A>G (p.Glu486Gly) single nucleotide variant not provided [RCV003739630] Chr10:68437200 [GRCh38]
Chr10:70196957 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.345A>C (p.Gly115=) single nucleotide variant not provided [RCV003661625] Chr10:68468219 [GRCh38]
Chr10:70227976 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1983+2dup duplication not provided [RCV003575511] Chr10:68431859..68431860 [GRCh38]
Chr10:70191616..70191617 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.984A>G (p.Pro328=) single nucleotide variant not provided [RCV003695870] Chr10:68446369 [GRCh38]
Chr10:70206126 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2354T>C (p.Val785Ala) single nucleotide variant not provided [RCV003577983] Chr10:68422745 [GRCh38]
Chr10:70182502 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.223G>C (p.Glu75Gln) single nucleotide variant not provided [RCV003695594] Chr10:68470015 [GRCh38]
Chr10:70229772 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1059A>T (p.Glu353Asp) single nucleotide variant not provided [RCV003695001]|not specified [RCV003988138] Chr10:68445082 [GRCh38]
Chr10:70204839 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.84G>A (p.Lys28=) single nucleotide variant not provided [RCV003688262] Chr10:68470154 [GRCh38]
Chr10:70229911 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2852A>G (p.Asn951Ser) single nucleotide variant not provided [RCV003576892] Chr10:68419149 [GRCh38]
Chr10:70178906 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1289C>T (p.Thr430Ile) single nucleotide variant not provided [RCV003885352]|not specified [RCV003489735] Chr10:68443043 [GRCh38]
Chr10:70202800 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3068A>C (p.Tyr1023Ser) single nucleotide variant not provided [RCV003690211] Chr10:68416755 [GRCh38]
Chr10:70176512 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.442-10G>C single nucleotide variant not provided [RCV003694707] Chr10:68465822 [GRCh38]
Chr10:70225579 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.27G>C (p.Leu9=) single nucleotide variant not provided [RCV003827042] Chr10:68471838 [GRCh38]
Chr10:70231595 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.3074C>T (p.Pro1025Leu) single nucleotide variant not provided [RCV003544670] Chr10:68416749 [GRCh38]
Chr10:70176506 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1160T>C (p.Ile387Thr) single nucleotide variant not provided [RCV003714656] Chr10:68444981 [GRCh38]
Chr10:70204738 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3114+12C>A single nucleotide variant not provided [RCV003715246] Chr10:68416697 [GRCh38]
Chr10:70176454 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2958G>A (p.Lys986=) single nucleotide variant not provided [RCV003572002] Chr10:68419043 [GRCh38]
Chr10:70178800 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1815C>G (p.Ser605=) single nucleotide variant not provided [RCV003571953] Chr10:68432264 [GRCh38]
Chr10:70192021 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2787+7T>C single nucleotide variant not provided [RCV003691443] Chr10:68419796 [GRCh38]
Chr10:70179553 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2577C>A (p.Asn859Lys) single nucleotide variant Inborn genetic diseases [RCV004369654]|not provided [RCV003880055] Chr10:68422345 [GRCh38]
Chr10:70182102 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1057+20A>T single nucleotide variant not provided [RCV003880810] Chr10:68446276 [GRCh38]
Chr10:70206033 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2697+17_2697+18del deletion not provided [RCV003835437] Chr10:68422207..68422208 [GRCh38]
Chr10:70181964..70181965 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2208+16G>A single nucleotide variant not provided [RCV003664399] Chr10:68430420 [GRCh38]
Chr10:70190177 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1874-14G>T single nucleotide variant not provided [RCV003550006] Chr10:68431985 [GRCh38]
Chr10:70191742 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2993G>A (p.Arg998Gln) single nucleotide variant Inborn genetic diseases [RCV004374082]|not provided [RCV003718068] Chr10:68416830 [GRCh38]
Chr10:70176587 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2305C>G (p.Gln769Glu) single nucleotide variant not provided [RCV003835175] Chr10:68422794 [GRCh38]
Chr10:70182551 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1416-20T>C single nucleotide variant not provided [RCV003549149] Chr10:68437261 [GRCh38]
Chr10:70197018 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.74+17del deletion not provided [RCV003549446] Chr10:68471774 [GRCh38]
Chr10:70231531 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1449T>C (p.Ile483=) single nucleotide variant not provided [RCV003549451] Chr10:68437208 [GRCh38]
Chr10:70196965 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2402+4G>C single nucleotide variant not provided [RCV003659506] Chr10:68422693 [GRCh38]
Chr10:70182450 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.74+12G>T single nucleotide variant not provided [RCV003665020] Chr10:68471779 [GRCh38]
Chr10:70231536 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.257+20G>A single nucleotide variant not provided [RCV003665028] Chr10:68469961 [GRCh38]
Chr10:70229718 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.776T>G (p.Met259Arg) single nucleotide variant not provided [RCV003673582] Chr10:68450191 [GRCh38]
Chr10:70209948 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2044G>A (p.Val682Ile) single nucleotide variant not provided [RCV004585610] Chr10:68430600 [GRCh38]
Chr10:70190357 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2955T>C (p.Asn985=) single nucleotide variant not provided [RCV004585661] Chr10:68419046 [GRCh38]
Chr10:70178803 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2171A>G (p.Lys724Arg) single nucleotide variant not provided [RCV003852196] Chr10:68430473 [GRCh38]
Chr10:70190230 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1984-17C>A single nucleotide variant not provided [RCV003674032] Chr10:68430677 [GRCh38]
Chr10:70190434 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2844G>T (p.Lys948Asn) single nucleotide variant not provided [RCV003717194] Chr10:68419157 [GRCh38]
Chr10:70178914 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.822C>G (p.Gly274=) single nucleotide variant not provided [RCV003548287] Chr10:68450145 [GRCh38]
Chr10:70209902 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1031T>C (p.Val344Ala) single nucleotide variant not provided [RCV003837596] Chr10:68446322 [GRCh38]
Chr10:70206079 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1058-5dup duplication not provided [RCV003855490] Chr10:68445087..68445088 [GRCh38]
Chr10:70204844..70204845 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1803T>C (p.Pro601=) single nucleotide variant not provided [RCV003840086] Chr10:68432276 [GRCh38]
Chr10:70192033 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1167A>G (p.Glu389=) single nucleotide variant not provided [RCV003667865] Chr10:68444974 [GRCh38]
Chr10:70204731 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2873T>C (p.Ile958Thr) single nucleotide variant not provided [RCV003671628] Chr10:68419128 [GRCh38]
Chr10:70178885 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2242C>A (p.His748Asn) single nucleotide variant not provided [RCV003838583] Chr10:68422857 [GRCh38]
Chr10:70182614 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.155T>G (p.Val52Gly) single nucleotide variant not provided [RCV003672990] Chr10:68470083 [GRCh38]
Chr10:70229840 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1127A>G (p.Gln376Arg) single nucleotide variant not provided [RCV003849961] Chr10:68445014 [GRCh38]
Chr10:70204771 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3026A>G (p.His1009Arg) single nucleotide variant not provided [RCV003814252] Chr10:68416797 [GRCh38]
Chr10:70176554 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2256C>G (p.Ser752=) single nucleotide variant not provided [RCV003725058] Chr10:68422843 [GRCh38]
Chr10:70182600 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.262T>C (p.Ser88Pro) single nucleotide variant not provided [RCV003701318] Chr10:68468302 [GRCh38]
Chr10:70228059 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2458G>C (p.Val820Leu) single nucleotide variant not provided [RCV003673093] Chr10:68422549 [GRCh38]
Chr10:70182306 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2167A>G (p.Ile723Val) single nucleotide variant not provided [RCV003814683] Chr10:68430477 [GRCh38]
Chr10:70190234 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1965A>G (p.Thr655=) single nucleotide variant not provided [RCV003838530] Chr10:68431880 [GRCh38]
Chr10:70191637 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.3032T>G (p.Leu1011Arg) single nucleotide variant not provided [RCV003665887] Chr10:68416791 [GRCh38]
Chr10:70176548 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.263C>T (p.Ser88Phe) single nucleotide variant not provided [RCV003832797] Chr10:68468301 [GRCh38]
Chr10:70228058 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2102A>G (p.Gln701Arg) single nucleotide variant not provided [RCV003839144] Chr10:68430542 [GRCh38]
Chr10:70190299 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1368T>C (p.Asp456=) single nucleotide variant not provided [RCV003814406] Chr10:68442964 [GRCh38]
Chr10:70202721 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.920C>G (p.Ser307Cys) single nucleotide variant not provided [RCV003579652] Chr10:68450047 [GRCh38]
Chr10:70209804 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.74+17G>A single nucleotide variant not provided [RCV003811668] Chr10:68471774 [GRCh38]
Chr10:70231531 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2788-16G>A single nucleotide variant not provided [RCV003723591] Chr10:68419229 [GRCh38]
Chr10:70178986 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2427A>G (p.Leu809=) single nucleotide variant not provided [RCV003838191] Chr10:68422580 [GRCh38]
Chr10:70182337 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.939+1G>A single nucleotide variant not provided [RCV003698420] Chr10:68450027 [GRCh38]
Chr10:70209784 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1363A>C (p.Lys455Gln) single nucleotide variant not provided [RCV003671527] Chr10:68442969 [GRCh38]
Chr10:70202726 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2403-18A>T single nucleotide variant not provided [RCV003672654] Chr10:68422622 [GRCh38]
Chr10:70182379 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2214A>G (p.Ile738Met) single nucleotide variant Inborn genetic diseases [RCV004371547]|not provided [RCV003671887] Chr10:68422885 [GRCh38]
Chr10:70182642 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.720-2A>G single nucleotide variant not provided [RCV003702036] Chr10:68450249 [GRCh38]
Chr10:70210006 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1094T>C (p.Leu365Ser) single nucleotide variant not provided [RCV003702229] Chr10:68445047 [GRCh38]
Chr10:70204804 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2493-13del deletion not provided [RCV003541806] Chr10:68422442 [GRCh38]
Chr10:70182199 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1097T>C (p.Phe366Ser) single nucleotide variant not provided [RCV003678865] Chr10:68445044 [GRCh38]
Chr10:70204801 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.136C>T (p.Arg46Trp) single nucleotide variant not provided [RCV003731020] Chr10:68470102 [GRCh38]
Chr10:70229859 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1175C>G (p.Thr392Ser) single nucleotide variant not provided [RCV003819682] Chr10:68444966 [GRCh38]
Chr10:70204723 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.428G>A (p.Ser143Asn) single nucleotide variant not provided [RCV003681835] Chr10:68468136 [GRCh38]
Chr10:70227893 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3044G>A (p.Gly1015Glu) single nucleotide variant not provided [RCV003841440] Chr10:68416779 [GRCh38]
Chr10:70176536 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2996G>A (p.Arg999His) single nucleotide variant not provided [RCV003729233] Chr10:68416827 [GRCh38]
Chr10:70176584 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2862G>C (p.Leu954Phe) single nucleotide variant not provided [RCV003734616] Chr10:68419139 [GRCh38]
Chr10:70178896 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.319A>G (p.Thr107Ala) single nucleotide variant Inborn genetic diseases [RCV004369072]|not provided [RCV003553331] Chr10:68468245 [GRCh38]
Chr10:70228002 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2497A>C (p.Ile833Leu) single nucleotide variant not provided [RCV003676200] Chr10:68422425 [GRCh38]
Chr10:70182182 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1711A>G (p.Ile571Val) single nucleotide variant not provided [RCV003676379] Chr10:68432446 [GRCh38]
Chr10:70192203 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2935G>A (p.Val979Ile) single nucleotide variant not provided [RCV003729514] Chr10:68419066 [GRCh38]
Chr10:70178823 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.303A>G (p.Gly101=) single nucleotide variant not provided [RCV003731142] Chr10:68468261 [GRCh38]
Chr10:70228018 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1647-15_1647-12del deletion not provided [RCV003568075] Chr10:68432522..68432525 [GRCh38]
Chr10:70192279..70192282 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.3096T>C (p.His1032=) single nucleotide variant not provided [RCV003682813] Chr10:68416727 [GRCh38]
Chr10:70176484 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.147G>T (p.Val49=) single nucleotide variant DNA2-related disorder [RCV003981163]|not provided [RCV003844135] Chr10:68470091 [GRCh38]
Chr10:70229848 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.551T>C (p.Phe184Ser) single nucleotide variant not provided [RCV003818417] Chr10:68465703 [GRCh38]
Chr10:70225460 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.720-6_720-4dup duplication not provided [RCV003708118] Chr10:68450250..68450251 [GRCh38]
Chr10:70210007..70210008 [GRCh37]
Chr10:10q21.3		 benign
NM_001080449.3(DNA2):c.1753dup (p.Thr585fs) duplication not provided [RCV003734908] Chr10:68432403..68432404 [GRCh38]
Chr10:70192160..70192161 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.11:g.68422603CT[1] microsatellite not provided [RCV003704291] Chr10:68422603..68422604 [GRCh38]
Chr10:70182360..70182361 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1698A>G (p.Glu566=) single nucleotide variant not provided [RCV003552445] Chr10:68432459 [GRCh38]
Chr10:70192216 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2272T>G (p.Phe758Val) single nucleotide variant not provided [RCV003728276] Chr10:68422827 [GRCh38]
Chr10:70182584 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1558G>T (p.Val520Leu) single nucleotide variant not provided [RCV003550876] Chr10:68437099 [GRCh38]
Chr10:70196856 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.955C>A (p.Leu319Ile) single nucleotide variant Inborn genetic diseases [RCV004614533]|not provided [RCV003819507] Chr10:68446398 [GRCh38]
Chr10:70206155 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1310A>C (p.His437Pro) single nucleotide variant not provided [RCV003677151] Chr10:68443022 [GRCh38]
Chr10:70202779 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.257+11T>A single nucleotide variant not provided [RCV003676792] Chr10:68469970 [GRCh38]
Chr10:70229727 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2248A>G (p.Ile750Val) single nucleotide variant not provided [RCV003676884] Chr10:68422851 [GRCh38]
Chr10:70182608 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.587+18_587+20del microsatellite not provided [RCV003843090] Chr10:68465647..68465649 [GRCh38]
Chr10:70225404..70225406 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.720-9T>A single nucleotide variant not provided [RCV003721011] Chr10:68450256 [GRCh38]
Chr10:70210013 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1888C>T (p.Gln630Ter) single nucleotide variant not provided [RCV003557507] Chr10:68431957 [GRCh38]
Chr10:70191714 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1682G>A (p.Arg561Lys) single nucleotide variant not provided [RCV003871081] Chr10:68432475 [GRCh38]
Chr10:70192232 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.616A>T (p.Ile206Leu) single nucleotide variant not provided [RCV003721041] Chr10:68459207 [GRCh38]
Chr10:70218964 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1873+15C>T single nucleotide variant not provided [RCV003864038] Chr10:68432191 [GRCh38]
Chr10:70191948 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1763G>A (p.Ser588Asn) single nucleotide variant not provided [RCV003712453] Chr10:68432394 [GRCh38]
Chr10:70192151 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.211dup (p.Ser71fs) duplication not provided [RCV003684865] Chr10:68470026..68470027 [GRCh38]
Chr10:70229783..70229784 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2617T>C (p.Tyr873His) single nucleotide variant not provided [RCV003719930] Chr10:68422305 [GRCh38]
Chr10:70182062 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1912C>A (p.Leu638Ile) single nucleotide variant not provided [RCV003552648] Chr10:68431933 [GRCh38]
Chr10:70191690 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.938A>G (p.Gln313Arg) single nucleotide variant not provided [RCV003737755] Chr10:68450029 [GRCh38]
Chr10:70209786 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2788-18G>T single nucleotide variant not provided [RCV003821768] Chr10:68419231 [GRCh38]
Chr10:70178988 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1819C>T (p.Leu607Phe) single nucleotide variant not provided [RCV003709201] Chr10:68432260 [GRCh38]
Chr10:70192017 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.440G>C (p.Arg147Thr) single nucleotide variant not provided [RCV003868222] Chr10:68468124 [GRCh38]
Chr10:70227881 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.735_738del (p.Ser245fs) deletion not provided [RCV003681813] Chr10:68450229..68450232 [GRCh38]
Chr10:70209986..70209989 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.505G>T (p.Ala169Ser) single nucleotide variant not provided [RCV003869222] Chr10:68465749 [GRCh38]
Chr10:70225506 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.65C>T (p.Pro22Leu) single nucleotide variant not provided [RCV003678202] Chr10:68471800 [GRCh38]
Chr10:70231557 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1135C>A (p.Gln379Lys) single nucleotide variant not provided [RCV003676977] Chr10:68445006 [GRCh38]
Chr10:70204763 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2564A>T (p.Asn855Ile) single nucleotide variant not provided [RCV003682535] Chr10:68422358 [GRCh38]
Chr10:70182115 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2855A>G (p.Asp952Gly) single nucleotide variant not provided [RCV003721587] Chr10:68419146 [GRCh38]
Chr10:70178903 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.530A>T (p.Glu177Val) single nucleotide variant not provided [RCV003863756] Chr10:68465724 [GRCh38]
Chr10:70225481 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2404G>A (p.Ala802Thr) single nucleotide variant not provided [RCV003822923] Chr10:68422603 [GRCh38]
Chr10:70182360 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2369A>T (p.Gln790Leu) single nucleotide variant not provided [RCV003733893] Chr10:68422730 [GRCh38]
Chr10:70182487 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2965A>C (p.Thr989Pro) single nucleotide variant not provided [RCV003541860] Chr10:68419036 [GRCh38]
Chr10:70178793 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2173T>G (p.Ser725Ala) single nucleotide variant not provided [RCV003710771] Chr10:68430471 [GRCh38]
Chr10:70190228 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2652A>C (p.Gly884=) single nucleotide variant not provided [RCV003864403] Chr10:68422270 [GRCh38]
Chr10:70182027 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.480G>A (p.Thr160=) single nucleotide variant not provided [RCV003854066] Chr10:68465774 [GRCh38]
Chr10:70225531 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2829C>T (p.Tyr943=) single nucleotide variant DNA2-related disorder [RCV003966732]|not provided [RCV003869005] Chr10:68419172 [GRCh38]
Chr10:70178929 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.147G>A (p.Val49=) single nucleotide variant not provided [RCV003842564] Chr10:68470091 [GRCh38]
Chr10:70229848 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1680C>T (p.Phe560=) single nucleotide variant not provided [RCV003728966] Chr10:68432477 [GRCh38]
Chr10:70192234 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2400A>G (p.Ala800=) single nucleotide variant not provided [RCV003709997] Chr10:68422699 [GRCh38]
Chr10:70182456 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1984-10C>A single nucleotide variant not provided [RCV003681882] Chr10:68430670 [GRCh38]
Chr10:70190427 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2694C>T (p.Asp898=) single nucleotide variant not provided [RCV003711503] Chr10:68422228 [GRCh38]
Chr10:70181985 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2331T>C (p.Phe777=) single nucleotide variant not provided [RCV003846563] Chr10:68422768 [GRCh38]
Chr10:70182525 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2286T>G (p.Asp762Glu) single nucleotide variant not provided [RCV003728275] Chr10:68422813 [GRCh38]
Chr10:70182570 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1105A>G (p.Ile369Val) single nucleotide variant not provided [RCV003847821] Chr10:68445036 [GRCh38]
Chr10:70204793 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2684T>C (p.Leu895Pro) single nucleotide variant not provided [RCV003706152] Chr10:68422238 [GRCh38]
Chr10:70181995 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1057+5A>T single nucleotide variant not provided [RCV003678097] Chr10:68446291 [GRCh38]
Chr10:70206048 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1057+19T>C single nucleotide variant not provided [RCV003847767] Chr10:68446277 [GRCh38]
Chr10:70206034 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2449A>G (p.Lys817Glu) single nucleotide variant not provided [RCV003676971] Chr10:68422558 [GRCh38]
Chr10:70182315 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.351_352delinsAT (p.Ile118Phe) indel not provided [RCV003670730] Chr10:68468212..68468213 [GRCh38]
Chr10:70227969..70227970 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.74+4A>C single nucleotide variant Seckel syndrome 8 [RCV004542241]|not provided [RCV003727114] Chr10:68471787 [GRCh38]
Chr10:70231544 [GRCh37]
Chr10:10q21.3		 pathogenic|likely pathogenic
NM_001080449.3(DNA2):c.2657T>C (p.Phe886Ser) single nucleotide variant not provided [RCV003683057] Chr10:68422265 [GRCh38]
Chr10:70182022 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2586C>G (p.His862Gln) single nucleotide variant not provided [RCV003864453] Chr10:68422336 [GRCh38]
Chr10:70182093 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2958G>C (p.Lys986Asn) single nucleotide variant Inborn genetic diseases [RCV004614538]|not provided [RCV003821024] Chr10:68419043 [GRCh38]
Chr10:70178800 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2949A>G (p.Arg983=) single nucleotide variant not provided [RCV003707818] Chr10:68419052 [GRCh38]
Chr10:70178809 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1584T>G (p.Phe528Leu) single nucleotide variant not provided [RCV003848154] Chr10:68437073 [GRCh38]
Chr10:70196830 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.537A>G (p.Leu179=) single nucleotide variant not provided [RCV003729934] Chr10:68465717 [GRCh38]
Chr10:70225474 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.217T>A (p.Ser73Thr) single nucleotide variant not provided [RCV003731301] Chr10:68470021 [GRCh38]
Chr10:70229778 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2492+11C>T single nucleotide variant not provided [RCV003564077] Chr10:68422504 [GRCh38]
Chr10:70182261 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1189T>C (p.Ser397Pro) single nucleotide variant not provided [RCV003708904] Chr10:68444952 [GRCh38]
Chr10:70204709 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1760T>G (p.Val587Gly) single nucleotide variant Inborn genetic diseases [RCV004368706] Chr10:68432397 [GRCh38]
Chr10:70192154 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.2750C>G (p.Ala917Gly) single nucleotide variant Inborn genetic diseases [RCV004368708] Chr10:68419840 [GRCh38]
Chr10:70179597 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.570A>T (p.Ile190=) single nucleotide variant DNA2-related disorder [RCV003966998] Chr10:68465684 [GRCh38]
Chr10:70225441 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1009A>G (p.Lys337Glu) single nucleotide variant Inborn genetic diseases [RCV004368705] Chr10:68446344 [GRCh38]
Chr10:70206101 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1924G>A (p.Asp642Asn) single nucleotide variant Inborn genetic diseases [RCV004368707] Chr10:68431921 [GRCh38]
Chr10:70191678 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.728A>T (p.Asp243Val) single nucleotide variant Inborn genetic diseases [RCV004368710] Chr10:68450239 [GRCh38]
Chr10:70209996 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1004A>G (p.Tyr335Cys) single nucleotide variant Inborn genetic diseases [RCV004368704] Chr10:68446349 [GRCh38]
Chr10:70206106 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1221-9T>C single nucleotide variant DNA2-related disorder [RCV003983483] Chr10:68443120 [GRCh38]
Chr10:70202877 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.984_985insAA (p.Glu329fs) insertion not specified [RCV003988261] Chr10:68446368..68446369 [GRCh38]
Chr10:70206125..70206126 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.74+17dup duplication not specified [RCV003988504] Chr10:68471773..68471774 [GRCh38]
Chr10:70231530..70231531 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.1963A>G (p.Thr655Ala) single nucleotide variant Seckel syndrome 8 [RCV004544248] Chr10:68431882 [GRCh38]
Chr10:70191639 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_001080449.3(DNA2):c.1982_1983del (p.Leu661fs) microsatellite Mitochondrial DNA deletion syndrome with progressive myopathy [RCV004527486] Chr10:68431862..68431863 [GRCh38]
Chr10:70191619..70191620 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3:c.1764-38_1764-37insGAACCTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTC insertion Seckel syndrome 8 [RCV004544247]   pathogenic
NC_000010.10:g.(?_70206033)_(70206190_?)del deletion not provided [RCV004581723] Chr10:70206033..70206190 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001080449.3(DNA2):c.588-4G>T single nucleotide variant not provided [RCV000913193] Chr10:68459239 [GRCh38]
Chr10:70218996 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2671C>T (p.Pro891Ser) single nucleotide variant not provided [RCV001761094] Chr10:68422251 [GRCh38]
Chr10:70182008 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1827T>A (p.Ser609=) single nucleotide variant not provided [RCV003121864] Chr10:68432252 [GRCh38]
Chr10:70192009 [GRCh37]
Chr10:10q21.3		 likely benign
NC_000010.10:g.(?_70182373)_(70187737_?)del deletion not provided [RCV003122471] Chr10:70182373..70187737 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70174796)_(70174884_?)del deletion not provided [RCV003122472] Chr10:70174796..70174884 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70225404)_(70225589_?)del deletion not provided [RCV003122473] Chr10:70225404..70225589 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70174796)_(70231621_?)dup duplication not provided [RCV003122475] Chr10:70174796..70231621 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70218841)_(70225589_?)del deletion not provided [RCV003122474] Chr10:70218841..70225589 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70209765)_(70210024_?)dup duplication not provided [RCV003122476] Chr10:70209765..70210024 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70202654)_(70231621_?)dup duplication not provided [RCV003122477] Chr10:70202654..70231621 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.442-768_587+648del deletion Rothmund-Thomson syndrome [RCV003154246]|Rothmund-Thomson syndrome, type 4 [RCV004545285] Chr10:68465019..68466580 [GRCh38]
Chr10:70224776..70226337 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_001080449.3(DNA2):c.2208+2456_2403-18del deletion Rothmund-Thomson syndrome [RCV003154245]|Rothmund-Thomson syndrome, type 4 [RCV004545284] Chr10:68422622..68427980 [GRCh38]
Chr10:70182379..70187737 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_001080449.3(DNA2):c.3084G>T (p.Lys1028Asn) single nucleotide variant not provided [RCV003146191] Chr10:68416739 [GRCh38]
Chr10:70176496 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3059T>C (p.Leu1020Pro) single nucleotide variant not provided [RCV003325739] Chr10:68416764 [GRCh38]
Chr10:70176521 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.3087G>C (p.Leu1029=) single nucleotide variant not provided [RCV003417440] Chr10:68416736 [GRCh38]
Chr10:70176493 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2002T>G (p.Cys668Gly) single nucleotide variant not provided [RCV003417441] Chr10:68430642 [GRCh38]
Chr10:70190399 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1819C>G (p.Leu607Val) single nucleotide variant not provided [RCV003417442] Chr10:68432260 [GRCh38]
Chr10:70192017 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1548_1549del (p.Asp516fs) deletion not provided [RCV003417443] Chr10:68437108..68437109 [GRCh38]
Chr10:70196865..70196866 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.1041C>T (p.Asn347=) single nucleotide variant not provided [RCV003417444] Chr10:68446312 [GRCh38]
Chr10:70206069 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.791G>A (p.Ser264Asn) single nucleotide variant not provided [RCV003417445] Chr10:68450176 [GRCh38]
Chr10:70209933 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.2313T>C (p.Ile771=) single nucleotide variant not provided [RCV003558327] Chr10:68422786 [GRCh38]
Chr10:70182543 [GRCh37]
Chr10:10q21.3		 likely benign
NM_001080449.3(DNA2):c.56C>G (p.Ala19Gly) single nucleotide variant not provided [RCV003683652] Chr10:68471809 [GRCh38]
Chr10:70231566 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70174796)_(70176632_?)del deletion not provided [RCV004581724] Chr10:70174796..70176632 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70204658)_(70206190_?)del deletion not provided [RCV004581725] Chr10:70204658..70206190 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70225404)_(70231621_?)dup duplication not provided [RCV004581726] Chr10:70225404..70231621 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_70176446)_(70192287_?)dup duplication not provided [RCV004581728] Chr10:70176446..70192287 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_001080449.3(DNA2):c.587+12T>A single nucleotide variant not specified [RCV004689493] Chr10:68465655 [GRCh38]
Chr10:70225412 [GRCh37]
Chr10:10q21.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2078
Count of miRNA genes:661
Interacting mature miRNAs:724
Transcripts:ENST00000358410, ENST00000399179, ENST00000399180, ENST00000440722, ENST00000478029, ENST00000550357, ENST00000550545, ENST00000551118
Prediction methods:Microtar, Miranda, Rnahybrid
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
407149636GWAS798612_HS-7-hydroxywarfarin measurement QTL GWAS798612 (human)0.000001S-7-hydroxywarfarin measurement106845518268455183Human
407100689GWAS749665_Hage at menopause QTL GWAS749665 (human)3e-11age at menopause106846477568464776Human
407281781GWAS930757_Hcup-to-disc ratio measurement QTL GWAS930757 (human)2e-08cup-to-disc ratio measurement106844896268448963Human
407155056GWAS804032_HS-6-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS804032 (human)0.000005S-6-hydroxywarfarin to S-warfarin ratio measurement106845518268455183Human
407192449GWAS841425_Hindolepropionate measurement QTL GWAS841425 (human)0.00001indolepropionate measurement106843776268437763Human
407305585GWAS954561_Hlean body mass QTL GWAS954561 (human)2e-12body lean mass (VT:0010483)total body lean mass (CMO:0003950)106843748268437483Human
407328752GWAS977728_Hbody weight QTL GWAS977728 (human)8e-10body mass (VT:0001259)body weight (CMO:0000012)106845729568457296Human
407050603GWAS699579_Hsexual dimorphism measurement QTL GWAS699579 (human)8e-09sexual dimorphism measurement106843827068438271Human
407275820GWAS924796_Hbody height QTL GWAS924796 (human)1e-145body height (VT:0001253)body height (CMO:0000106)106846077868460779Human
407355884GWAS1004860_HBMI-adjusted hip circumference QTL GWAS1004860 (human)4e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)106845643668456437Human

Markers in Region
D10S274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,216,061 - 70,216,163UniSTSGRCh37
Build 361069,886,067 - 69,886,169RGDNCBI36
Celera1063,491,443 - 63,491,545RGD
Cytogenetic Map10q21.3-q22.1UniSTS
HuRef1064,215,649 - 64,215,751UniSTS
D10S309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,215,622 - 70,215,807UniSTSGRCh37
Build 361069,885,628 - 69,885,813RGDNCBI36
Celera1063,491,004 - 63,491,189RGD
Cytogenetic Map10q21.3-q22.1UniSTS
HuRef1064,215,210 - 64,215,395UniSTS
RH25311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,173,927 - 70,174,107UniSTSGRCh37
Build 361069,843,933 - 69,844,113RGDNCBI36
Celera1063,449,287 - 63,449,467RGD
Cytogenetic Map10q21.3-q22.1UniSTS
HuRef1064,173,369 - 64,173,549UniSTS
GeneMap99-GB4 RH Map10368.06UniSTS
NCBI RH Map10893.2UniSTS
D10S2165  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q21.3-q22.1UniSTS
Stanford-G3 RH Map103031.0UniSTS
GeneMap99-GB4 RH Map10368.06UniSTS
Whitehead-RH Map10435.9UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map10890.9UniSTS
GeneMap99-G3 RH Map103007.0UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001080449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_102264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK307939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D42046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC404138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000358410   ⟹   ENSP00000351185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,414,064 - 68,471,973 (-)Ensembl
Ensembl Acc Id: ENST00000399179   ⟹   ENSP00000382132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,414,989 - 68,472,121 (-)Ensembl
Ensembl Acc Id: ENST00000399180   ⟹   ENSP00000382133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,414,989 - 68,472,121 (-)Ensembl
Ensembl Acc Id: ENST00000440722   ⟹   ENSP00000389713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,416,615 - 68,430,607 (-)Ensembl
Ensembl Acc Id: ENST00000478029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,436,854 - 68,443,006 (-)Ensembl
Ensembl Acc Id: ENST00000550357   ⟹   ENSP00000450014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,468,167 - 68,471,886 (-)Ensembl
Ensembl Acc Id: ENST00000550545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,416,686 - 68,419,423 (-)Ensembl
Ensembl Acc Id: ENST00000551118   ⟹   ENSP00000450393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,414,064 - 68,471,886 (-)Ensembl
RefSeq Acc Id: NM_001080449   ⟹   NP_001073918
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,414,064 - 68,471,973 (-)NCBI
GRCh371070,173,821 - 70,231,878 (-)NCBI
Build 361069,843,827 - 69,901,885 (-)NCBI Archive
HuRef1064,173,263 - 64,231,457 (-)NCBI
CHM1_11070,455,594 - 70,513,978 (-)NCBI
T2T-CHM13v2.01069,283,292 - 69,341,210 (-)NCBI
Sequence:
RefSeq Acc Id: NR_102264
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,414,064 - 68,472,121 (-)NCBI
GRCh371070,173,821 - 70,231,878 (-)NCBI
HuRef1064,173,263 - 64,231,457 (-)NCBI
CHM1_11070,455,594 - 70,514,126 (-)NCBI
T2T-CHM13v2.01069,283,292 - 69,341,358 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717680   ⟹   XP_006717743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,414,064 - 68,472,521 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539417   ⟹   XP_011537719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,414,064 - 68,450,117 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015799   ⟹   XP_016871288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,414,064 - 68,468,207 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054364944   ⟹   XP_054220919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01069,283,292 - 69,341,758 (-)NCBI
RefSeq Acc Id: XM_054364945   ⟹   XP_054220920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01069,283,292 - 69,337,444 (-)NCBI
RefSeq Acc Id: XM_054364946   ⟹   XP_054220921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01069,283,292 - 69,319,353 (-)NCBI
RefSeq Acc Id: NP_001073918   ⟸   NM_001080449
- UniProtKB: Q7Z6H9 (UniProtKB/Swiss-Prot),   Q6PI80 (UniProtKB/Swiss-Prot),   Q6P455 (UniProtKB/Swiss-Prot),   Q5TC50 (UniProtKB/Swiss-Prot),   Q5TC49 (UniProtKB/Swiss-Prot),   Q2NKM1 (UniProtKB/Swiss-Prot),   Q8N346 (UniProtKB/Swiss-Prot),   P51530 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717743   ⟸   XM_006717680
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537719   ⟸   XM_011539417
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016871288   ⟸   XM_017015799
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000382132   ⟸   ENST00000399179
Ensembl Acc Id: ENSP00000382133   ⟸   ENST00000399180
Ensembl Acc Id: ENSP00000389713   ⟸   ENST00000440722
Ensembl Acc Id: ENSP00000450014   ⟸   ENST00000550357
Ensembl Acc Id: ENSP00000450393   ⟸   ENST00000551118
Ensembl Acc Id: ENSP00000351185   ⟸   ENST00000358410
RefSeq Acc Id: XP_054220919   ⟸   XM_054364944
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054220920   ⟸   XM_054364945
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220921   ⟸   XM_054364946
- Peptide Label: isoform X3
Protein Domains
DNA replication factor Dna2 N-terminal   DNA2 rift barrel   DNA2/NAM7 helicase helicase   DNA2/NAM7 helicase-like C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51530-F1-model_v2 AlphaFold P51530 1-1060 view protein structure

Promoters
RGD ID:7217705
Promoter ID:EPDNEW_H14598
Type:initiation region
Name:DNA2_1
Description:DNA replication helicase/nuclease 2
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
GRCh381068,471,931 - 68,471,991EPDNEW
RGD ID:6814463
Promoter ID:HG_XEF:952
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_177372
Position:
Human AssemblyChrPosition (strand)Source
Build 361069,900,596 - 69,901,096 (-)MPROMDB
RGD ID:6787506
Promoter ID:HG_KWN:9817
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000358410,   ENST00000399179,   ENST00000399180,   NM_001080449,   UC001JOG.1,   UC001JOH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361069,901,446 - 69,901,946 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2939 AgrOrtholog
COSMIC DNA2 COSMIC
Ensembl Genes ENSG00000138346 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358410 ENTREZGENE
  ENST00000358410.8 UniProtKB/Swiss-Prot
  ENST00000399179.6 UniProtKB/Swiss-Prot
  ENST00000440722.2 UniProtKB/TrEMBL
  ENST00000550357.1 UniProtKB/TrEMBL
  ENST00000551118 ENTREZGENE
  ENST00000551118.6 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.320.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138346 GTEx
HGNC ID HGNC:2939 ENTREZGENE
Human Proteome Map DNA2 Human Proteome Map
InterPro Cas4_exonuclease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dna2 UniProtKB/Swiss-Prot
  DNA2/NAM7-like UniProtKB/TrEMBL
  DNA2/NAM7-like_AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA2/NAM7_AAA_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA2_Rift UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_replication_fac_Dna2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDDEXK-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SF1_C_Upf1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1763 UniProtKB/Swiss-Prot
NCBI Gene 1763 ENTREZGENE
OMIM 601810 OMIM
PANTHER CRISPR-ASSOCIATED EXONUCLEASE CAS4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA REPLICATION ATP-DEPENDENT HELICASE_NUCLEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10887 UniProtKB/TrEMBL
  PTHR10887:SF433 UniProtKB/TrEMBL
Pfam AAA_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dna2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dna2_Rift UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162383798 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt DNA2_HUMAN UniProtKB/Swiss-Prot
  F8VPM6_HUMAN UniProtKB/TrEMBL
  F8VR31_HUMAN UniProtKB/TrEMBL
  H0Y455_HUMAN UniProtKB/TrEMBL
  P51530 ENTREZGENE
  Q2NKM1 ENTREZGENE
  Q5TC49 ENTREZGENE
  Q5TC50 ENTREZGENE
  Q6P455 ENTREZGENE
  Q6PI80 ENTREZGENE
  Q7Z6H9 ENTREZGENE
  Q8N346 ENTREZGENE
UniProt Secondary Q2NKM1 UniProtKB/Swiss-Prot
  Q5TC49 UniProtKB/Swiss-Prot
  Q5TC50 UniProtKB/Swiss-Prot
  Q6P455 UniProtKB/Swiss-Prot
  Q6PI80 UniProtKB/Swiss-Prot
  Q7Z6H9 UniProtKB/Swiss-Prot
  Q8N346 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-05-21 DNA2  DNA replication helicase/nuclease 2    DNA replication helicase 2 homolog (yeast)  Symbol and/or name change 5135510 APPROVED