DOLK (dolichol kinase) - Rat Genome Database

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Gene: DOLK (dolichol kinase) Homo sapiens
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Symbol: DOLK
Name: dolichol kinase
RGD ID: 1321943
HGNC Page HGNC:23406
Description: Enables dolichol kinase activity. Involved in dolichyl monophosphate biosynthetic process and protein mannosylation. Located in endoplasmic reticulum membrane. Implicated in congenital disorder of glycosylation Im.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDG1M; DK; DK1; dolichol kinase 1; KIAA1094; SEC59; SEC59 homolog; TMEM15; transmembrane protein 15
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389128,945,530 - 128,947,603 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9128,945,530 - 128,947,603 (-)EnsemblGRCh38hg38GRCh38
GRCh379131,707,809 - 131,709,882 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,747,630 - 130,749,833 (-)NCBINCBI36Build 36hg18NCBI36
Build 349128,787,362 - 128,789,566NCBI
Celera9102,359,670 - 102,361,873 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9101,315,528 - 101,317,731 (-)NCBIHuRef
CHM1_19131,858,858 - 131,861,061 (-)NCBICHM1_1
T2T-CHM13v2.09141,148,939 - 141,151,012 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
dolichol kinase activity  (IBA,IDA,IEA,IMP,TAS)
kinase activity  (IEA)
protein binding  (IPI)

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

Human Phenotype
Abnormal circulating enzyme concentration or activity  (IAGP)
Absent speech  (IAGP)
Alopecia  (IAGP)
Arrhythmia  (IAGP)
Aspiration  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bradycardia  (IAGP)
Cardiomyocyte hypertrophy  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Death in infancy  (IAGP)
Delayed ability to stand  (IAGP)
Delayed ability to walk  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dry skin  (IAGP)
Dystonia  (IAGP)
Edema  (IAGP)
EEG with generalized slow activity  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
EMG abnormality  (IAGP)
Exertional dyspnea  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Focal-onset seizure  (IAGP)
Hyperkeratosis  (IAGP)
Hypoketotic hypoglycemia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Ichthyosis  (IAGP)
Increased circulating free fatty acid level  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Inflammatory abnormality of the skin  (IAGP)
Intellectual disability  (IAGP)
Interstitial cardiac fibrosis  (IAGP)
Left ventricular systolic dysfunction  (IAGP)
Lipoatrophy  (IAGP)
Mild global developmental delay  (IAGP)
Motor delay  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myopathy  (IAGP)
Nystagmus  (IAGP)
Orthopnea  (IAGP)
Progressive microcephaly  (IAGP)
Progressive muscle weakness  (IAGP)
Reduced eye contact  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Strabismus  (IAGP)
Tetraplegia  (IAGP)
Thromboembolic stroke  (IAGP)
Type I transferrin isoform profile  (IAGP)
Visual impairment  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:10470851   PMID:12213788   PMID:12477932   PMID:12975309   PMID:15164053   PMID:15489334   PMID:16923818   PMID:17273964   PMID:20301507   PMID:21516116   PMID:21873635  
PMID:22242004   PMID:25416956   PMID:26186194   PMID:26871637   PMID:28380382   PMID:28514442   PMID:28816422   PMID:32250540   PMID:32296183   PMID:33845483   PMID:33961781   PMID:34373451  


Genomics

Comparative Map Data
DOLK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389128,945,530 - 128,947,603 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9128,945,530 - 128,947,603 (-)EnsemblGRCh38hg38GRCh38
GRCh379131,707,809 - 131,709,882 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,747,630 - 130,749,833 (-)NCBINCBI36Build 36hg18NCBI36
Build 349128,787,362 - 128,789,566NCBI
Celera9102,359,670 - 102,361,873 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9101,315,528 - 101,317,731 (-)NCBIHuRef
CHM1_19131,858,858 - 131,861,061 (-)NCBICHM1_1
T2T-CHM13v2.09141,148,939 - 141,151,012 (-)NCBIT2T-CHM13v2.0
Dolk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39230,174,241 - 30,176,366 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl230,174,243 - 30,176,346 (-)EnsemblGRCm39 Ensembl
GRCm38230,284,229 - 30,286,354 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl230,284,231 - 30,286,334 (-)EnsemblGRCm38mm10GRCm38
MGSCv37230,139,749 - 30,141,874 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36230,106,271 - 30,108,088 (-)NCBIMGSCv36mm8
Celera229,988,986 - 29,991,111 (-)NCBICelera
Cytogenetic Map2BNCBI
cM Map221.49NCBI
Dolk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8333,955,642 - 33,957,680 (-)NCBIGRCr8
mRatBN7.2313,557,826 - 13,559,864 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl313,557,817 - 13,559,917 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx316,629,326 - 16,631,364 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0325,214,289 - 25,216,327 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0323,460,056 - 23,462,094 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.038,850,154 - 8,852,192 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl38,850,154 - 8,852,192 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0314,203,104 - 14,205,142 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.439,329,640 - 9,331,678 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.139,330,107 - 9,331,718 (-)NCBI
Celera38,324,376 - 8,326,414 (-)NCBICelera
Cytogenetic Map3p12NCBI
Dolk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555701,311,056 - 1,312,672 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555701,310,894 - 1,312,952 (-)NCBIChiLan1.0ChiLan1.0
DOLK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21110,404,989 - 10,406,905 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1910,407,463 - 10,409,253 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09100,067,512 - 100,069,596 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19128,731,590 - 128,733,787 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9128,731,747 - 128,733,363 (-)Ensemblpanpan1.1panPan2
DOLK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1954,712,920 - 54,715,005 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl954,713,239 - 54,714,849 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha953,908,459 - 53,910,563 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0955,633,974 - 55,636,078 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl955,634,308 - 55,635,918 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1954,395,110 - 54,397,213 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0954,707,475 - 54,709,579 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0954,801,029 - 54,803,133 (+)NCBIUU_Cfam_GSD_1.0
Dolk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947196,637,315 - 196,639,936 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648716,406,529 - 16,408,145 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648716,406,385 - 16,408,546 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DOLK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1269,257,540 - 269,259,156 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11269,257,386 - 269,259,484 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21303,273,506 - 303,275,598 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DOLK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1129,213,463 - 9,215,659 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl129,213,888 - 9,215,504 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666096340,595 - 342,677 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dolk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247606,107,162 - 6,108,778 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247606,106,890 - 6,108,939 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DOLK
463 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014908.4(DOLK):c.931G>T (p.Ala311Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000703948]|not provided [RCV000519803] Chr9:128946373 [GRCh38]
Chr9:131708652 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly) single nucleotide variant Cardiovascular phenotype [RCV002395250]|DK1-congenital disorder of glycosylation [RCV000527496]|not specified [RCV000521128] Chr9:128945823 [GRCh38]
Chr9:131708102 [GRCh37]
Chr9:9q34.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.703G>A (p.Val235Ile) single nucleotide variant Cardiovascular phenotype [RCV003302824]|DK1-congenital disorder of glycosylation [RCV000532898] Chr9:128946601 [GRCh38]
Chr9:131708880 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.975C>A (p.Ser325=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001462103] Chr9:128946329 [GRCh38]
Chr9:131708608 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.912G>T (p.Trp304Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000023836] Chr9:128946392 [GRCh38]
Chr9:131708671 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.3G>A (p.Met1Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000023837] Chr9:128947301 [GRCh38]
Chr9:131709580 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.137C>T (p.Ala46Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000639759] Chr9:128947167 [GRCh38]
Chr9:131709446 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.873C>T (p.Leu291=) single nucleotide variant Cardiovascular phenotype [RCV002377067]|DK1-congenital disorder of glycosylation [RCV000546812]|not provided [RCV000604341]|not specified [RCV003230536] Chr9:128946431 [GRCh38]
Chr9:131708710 [GRCh37]
Chr9:9q34.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014908.4(DOLK):c.206C>T (p.Ala69Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000797685]|not provided [RCV000521716] Chr9:128947098 [GRCh38]
Chr9:131709377 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1222C>G (p.His408Asp) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000023835] Chr9:128946082 [GRCh38]
Chr9:131708361 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.295T>A (p.Cys99Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000001190] Chr9:128947009 [GRCh38]
Chr9:131709288 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000001191] Chr9:128945982 [GRCh38]
Chr9:131708261 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) single nucleotide variant Cardiovascular phenotype [RCV002433594]|DK1-congenital disorder of glycosylation [RCV000087064]|not provided [RCV001818254] Chr9:128947302 [GRCh38]
Chr9:131709581 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3 copy number gain See cases [RCV000052257] Chr9:128808545..129002107 [GRCh38]
Chr9:131570824..131764386 [GRCh37]
Chr9:130610645..130804207 [NCBI36]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 copy number loss See cases [RCV000052934] Chr9:127874581..130421811 [GRCh38]
Chr9:130636860..133297198 [GRCh37]
Chr9:129676681..132287019 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3 copy number gain See cases [RCV000053777] Chr9:127919476..130079974 [GRCh38]
Chr9:130681755..132842253 [GRCh37]
Chr9:129721576..131882074 [NCBI36]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.186G>A (p.Arg62=) single nucleotide variant Cardiovascular phenotype [RCV002408609]|DK1-congenital disorder of glycosylation [RCV000542365]|DOLK-related disorder [RCV003915086]|not provided [RCV001719843]|not specified [RCV000081678] Chr9:128947118 [GRCh38]
Chr9:131709397 [GRCh37]
Chr9:9q34.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.552G>A (p.Leu184=) single nucleotide variant not provided [RCV000081679] Chr9:128946752 [GRCh38]
Chr9:131709031 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) single nucleotide variant Cardiovascular phenotype [RCV002362729]|DK1-congenital disorder of glycosylation [RCV001086475]|not provided [RCV000723523]|not specified [RCV000221125] Chr9:128946673 [GRCh38]
Chr9:131708952 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.700A>G (p.Met234Val) single nucleotide variant Cardiovascular phenotype [RCV002371930]|DK1-congenital disorder of glycosylation [RCV001084826]|DOLK-related disorder [RCV003915087]|not provided [RCV000723494] Chr9:128946604 [GRCh38]
Chr9:131708883 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.374C>A (p.Ser125Ter) single nucleotide variant Primary dilated cardiomyopathy [RCV001293222] Chr9:128946930 [GRCh38]
Chr9:131709209 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe) single nucleotide variant Cardiovascular phenotype [RCV002329338]|DK1-congenital disorder of glycosylation [RCV001348917]|not specified [RCV003317483] Chr9:128946126 [GRCh38]
Chr9:131708405 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_014908.4(DOLK):c.1dup (p.Met1fs) duplication Cardiovascular phenotype [RCV002415646]|DK1-congenital disorder of glycosylation [RCV001080976]|not provided [RCV000432254]|not specified [RCV000153163] Chr9:128947302..128947303 [GRCh38]
Chr9:131709581..131709582 [GRCh37]
Chr9:9q34.11		 benign|likely benign
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1 copy number loss See cases [RCV000138126] Chr9:128610170..129368351 [GRCh38]
Chr9:131372449..132130630 [GRCh37]
Chr9:130412270..131170451 [NCBI36]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3 copy number gain See cases [RCV000137775] Chr9:128839676..130912873 [GRCh38]
Chr9:131601955..133788260 [GRCh37]
Chr9:130641776..132778081 [NCBI36]
Chr9:9q34.11-34.12		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_014908.3(DOLK):c.1447C>A (p.Gln483Lys) single nucleotide variant not provided [RCV000598373] Chr9:128945857 [GRCh38]
Chr9:131708136 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.767C>T (p.Ser256Phe) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000543202] Chr9:128946537 [GRCh38]
Chr9:131708816 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) single nucleotide variant Cardiovascular phenotype [RCV003298280]|DK1-congenital disorder of glycosylation [RCV000639758]|not specified [RCV000217175] Chr9:128946579 [GRCh38]
Chr9:131708858 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) single nucleotide variant Cardiovascular phenotype [RCV002390567]|DK1-congenital disorder of glycosylation [RCV000875266]|DOLK-related disorder [RCV003937802]|not provided [RCV001722146]|not specified [RCV000222214] Chr9:128945867 [GRCh38]
Chr9:131708146 [GRCh37]
Chr9:9q34.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) single nucleotide variant Cardiovascular phenotype [RCV002381730]|DK1-congenital disorder of glycosylation [RCV000549891]|not provided [RCV001697244]|not specified [RCV000219890] Chr9:128945990 [GRCh38]
Chr9:131708269 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) single nucleotide variant Cardiovascular phenotype [RCV002363061]|DK1-congenital disorder of glycosylation [RCV001086824]|not provided [RCV000767057]|not specified [RCV000213468] Chr9:128946633 [GRCh38]
Chr9:131708912 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001056268]|not specified [RCV000213496] Chr9:128947108 [GRCh38]
Chr9:131709387 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_014908.4(DOLK):c.1035A>G (p.Val345=) single nucleotide variant not specified [RCV000220290] Chr9:128946269 [GRCh38]
Chr9:131708548 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) single nucleotide variant Cardiovascular phenotype [RCV002390572]|DK1-congenital disorder of glycosylation [RCV000639762]|not provided [RCV001568140]|not specified [RCV000213903] Chr9:128945910 [GRCh38]
Chr9:131708189 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) single nucleotide variant Cardiovascular phenotype [RCV002390568]|DK1-congenital disorder of glycosylation [RCV000549094]|not provided [RCV003430772]|not specified [RCV000213916] Chr9:128945854 [GRCh38]
Chr9:131708133 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) single nucleotide variant Cardiovascular phenotype [RCV002415893]|DK1-congenital disorder of glycosylation [RCV000546269]|DOLK-related disorder [RCV003967581]|not provided [RCV001697285]|not specified [RCV000213968] Chr9:128946225 [GRCh38]
Chr9:131708504 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity
NM_014908.4(DOLK):c.294G>A (p.Arg98=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002057104]|not specified [RCV000218192] Chr9:128947010 [GRCh38]
Chr9:131709289 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg) single nucleotide variant Cardiovascular phenotype [RCV002381729]|DK1-congenital disorder of glycosylation [RCV001083099]|not provided [RCV000842255]|not specified [RCV000218252] Chr9:128946018 [GRCh38]
Chr9:131708297 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 9q34.11(chr9:131550680-131775355)x3 copy number gain See cases [RCV000240044] Chr9:131550680..131775355 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_014908.4(DOLK):c.355A>G (p.Met119Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002001434] Chr9:128946949 [GRCh38]
Chr9:131709228 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.192A>G (p.Leu64=) single nucleotide variant Cardiovascular phenotype [RCV002413515]|DK1-congenital disorder of glycosylation [RCV000548168] Chr9:128947112 [GRCh38]
Chr9:131709391 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity
NM_014908.4(DOLK):c.-94G>T single nucleotide variant DK1-congenital disorder of glycosylation [RCV000370017] Chr9:128947397 [GRCh38]
Chr9:131709676 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.3(DOLK):c.-394A>G single nucleotide variant DK1-congenital disorder of glycosylation [RCV000371461] Chr9:128947697 [GRCh38]
Chr9:131709976 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.633C>T (p.Arg211=) single nucleotide variant Cardiovascular phenotype [RCV002365437]|DK1-congenital disorder of glycosylation [RCV000544179] Chr9:128946671 [GRCh38]
Chr9:131708950 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.3(DOLK):c.-411C>T single nucleotide variant DK1-congenital disorder of glycosylation [RCV000323596] Chr9:128947714 [GRCh38]
Chr9:131709993 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.3(DOLK):c.-404G>A single nucleotide variant DK1-congenital disorder of glycosylation [RCV000287303]|not provided [RCV000839153] Chr9:128947707 [GRCh38]
Chr9:131709986 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_014908.4(DOLK):c.1446G>A (p.Ala482=) single nucleotide variant Cardiovascular phenotype [RCV002392926]|DK1-congenital disorder of glycosylation [RCV000373369]|not provided [RCV000841971] Chr9:128945858 [GRCh38]
Chr9:131708137 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015354.3(NUP188):c.8C>T (p.Ala3Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000378227]|Inborn genetic diseases [RCV002523737]|not provided [RCV004591136] Chr9:128947727 [GRCh38]
Chr9:131710006 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.579G>A (p.Glu193=) single nucleotide variant Cardiovascular phenotype [RCV002356497]|DK1-congenital disorder of glycosylation [RCV000540518]|DOLK-related disorder [RCV003957864]|not provided [RCV001697829] Chr9:128946725 [GRCh38]
Chr9:131709004 [GRCh37]
Chr9:9q34.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.-269G>T single nucleotide variant DK1-congenital disorder of glycosylation [RCV000262716]|not provided [RCV004696115] Chr9:128947572 [GRCh38]
Chr9:131709851 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.-49A>G single nucleotide variant DK1-congenital disorder of glycosylation [RCV000315303]|not specified [RCV000430056] Chr9:128947352 [GRCh38]
Chr9:131709631 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_014908.4(DOLK):c.*124A>G single nucleotide variant DK1-congenital disorder of glycosylation [RCV000338110] Chr9:128945563 [GRCh38]
Chr9:131707842 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.3(DOLK):c.-386C>A single nucleotide variant DK1-congenital disorder of glycosylation [RCV000316808] Chr9:128947689 [GRCh38]
Chr9:131709968 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.219C>G (p.Phe73Leu) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000364228] Chr9:128947085 [GRCh38]
Chr9:131709364 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1130G>A (p.Arg377His) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000392025] Chr9:128946174 [GRCh38]
Chr9:131708453 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln) single nucleotide variant Cardiovascular phenotype [RCV002328890]|DK1-congenital disorder of glycosylation [RCV001044020] Chr9:128946138 [GRCh38]
Chr9:131708417 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.-149G>A single nucleotide variant DK1-congenital disorder of glycosylation [RCV000275557] Chr9:128947452 [GRCh38]
Chr9:131709731 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1067G>A (p.Arg356Gln) single nucleotide variant Cardiovascular phenotype [RCV002413514]|DK1-congenital disorder of glycosylation [RCV000531356]|not provided [RCV001570496] Chr9:128946237 [GRCh38]
Chr9:131708516 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.73G>A (p.Ala25Thr) single nucleotide variant Cardiovascular phenotype [RCV002383938]|DK1-congenital disorder of glycosylation [RCV002523408]|not provided [RCV000489968] Chr9:128947231 [GRCh38]
Chr9:131709510 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.-194G>T single nucleotide variant DK1-congenital disorder of glycosylation [RCV000330644] Chr9:128947497 [GRCh38]
Chr9:131709776 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.128947738G>A single nucleotide variant Congenital disorder of glycosylation [RCV000316700]|not provided [RCV001672746] Chr9:128947738 [GRCh38]
Chr9:131710017 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_014908.4(DOLK):c.513T>C (p.Leu171=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000309292]|not specified [RCV000605404] Chr9:128946791 [GRCh38]
Chr9:131709070 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_014908.4(DOLK):c.-255C>T single nucleotide variant DK1-congenital disorder of glycosylation [RCV000376031] Chr9:128947558 [GRCh38]
Chr9:131709837 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.710T>C (p.Met237Thr) single nucleotide variant Cardiovascular phenotype [RCV002367743]|DK1-congenital disorder of glycosylation [RCV001370425]|not provided [RCV000523766] Chr9:128946594 [GRCh38]
Chr9:131708873 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.165C>A (p.Tyr55Ter) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001860171]|not provided [RCV000596906] Chr9:128947139 [GRCh38]
Chr9:131709418 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_014908.4(DOLK):c.572C>A (p.Pro191His) single nucleotide variant Cardiovascular phenotype [RCV002343266]|DK1-congenital disorder of glycosylation [RCV000639754] Chr9:128946732 [GRCh38]
Chr9:131709011 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.611T>C (p.Val204Ala) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000555387] Chr9:128946693 [GRCh38]
Chr9:131708972 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.344C>T (p.Ala115Val) single nucleotide variant Cardiovascular phenotype [RCV004023977]|DK1-congenital disorder of glycosylation [RCV000541424] Chr9:128946960 [GRCh38]
Chr9:131709239 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe) indel DK1-congenital disorder of glycosylation [RCV000535562] Chr9:128946330..128946333 [GRCh38]
Chr9:131708609..131708612 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.807T>C (p.Gly269=) single nucleotide variant Cardiovascular phenotype [RCV002413516]|DK1-congenital disorder of glycosylation [RCV000536466] Chr9:128946497 [GRCh38]
Chr9:131708776 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
NM_014908.4(DOLK):c.525T>G (p.Val175=) single nucleotide variant Cardiovascular phenotype [RCV002339036]|DK1-congenital disorder of glycosylation [RCV000639763]|not specified [RCV000427469] Chr9:128946779 [GRCh38]
Chr9:131709058 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity
NM_014908.4(DOLK):c.905C>T (p.Ala302Val) single nucleotide variant not provided [RCV000427567] Chr9:128946399 [GRCh38]
Chr9:131708678 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.919C>T (p.Leu307=) single nucleotide variant Cardiovascular phenotype [RCV002374722]|DK1-congenital disorder of glycosylation [RCV000940775]|not specified [RCV000438173] Chr9:128946385 [GRCh38]
Chr9:131708664 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.159C>G (p.Ala53=) single nucleotide variant Cardiovascular phenotype [RCV002402165]|DK1-congenital disorder of glycosylation [RCV000639767]|not provided [RCV001720244]|not specified [RCV003479115] Chr9:128947145 [GRCh38]
Chr9:131709424 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1467G>T (p.Leu489=) single nucleotide variant Cardiovascular phenotype [RCV004619291]|DK1-congenital disorder of glycosylation [RCV002525459]|not specified [RCV000435897] Chr9:128945837 [GRCh38]
Chr9:131708116 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe) single nucleotide variant Cardiovascular phenotype [RCV002374720]|DK1-congenital disorder of glycosylation [RCV000557113]|not provided [RCV000432774] Chr9:128946406 [GRCh38]
Chr9:131708685 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1438A>G (p.Ile480Val) single nucleotide variant Cardiovascular phenotype [RCV002392948]|DK1-congenital disorder of glycosylation [RCV000808929]|not provided [RCV000431298] Chr9:128945866 [GRCh38]
Chr9:131708145 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.495C>A (p.Ile165=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001418024]|not specified [RCV000426333] Chr9:128946809 [GRCh38]
Chr9:131709088 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.771C>T (p.Ile257=) single nucleotide variant Cardiovascular phenotype [RCV002402207]|DK1-congenital disorder of glycosylation [RCV000558031]|not provided [RCV001704535]|not specified [RCV000440908] Chr9:128946533 [GRCh38]
Chr9:131708812 [GRCh37]
Chr9:9q34.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014908.4(DOLK):c.1114T>A (p.Phe372Ile) single nucleotide variant Cardiovascular phenotype [RCV002436324]|DK1-congenital disorder of glycosylation [RCV001088145]|not provided [RCV000437493] Chr9:128946190 [GRCh38]
Chr9:131708469 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.130T>C (p.Trp44Arg) single nucleotide variant not provided [RCV000444881] Chr9:128947174 [GRCh38]
Chr9:131709453 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
NM_014908.4(DOLK):c.1117C>T (p.Leu373=) single nucleotide variant Cardiovascular phenotype [RCV003301634] Chr9:128946187 [GRCh38]
Chr9:131708466 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.797T>C (p.Leu266Pro) single nucleotide variant Cardiovascular phenotype [RCV003301635] Chr9:128946507 [GRCh38]
Chr9:131708786 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.377C>T (p.Ser126Leu) single nucleotide variant Cardiovascular phenotype [RCV003301636] Chr9:128946927 [GRCh38]
Chr9:131709206 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.136G>T (p.Ala46Ser) single nucleotide variant Cardiovascular phenotype [RCV003301637] Chr9:128947168 [GRCh38]
Chr9:131709447 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.35C>T (p.Pro12Leu) single nucleotide variant Cardiovascular phenotype [RCV003301638] Chr9:128947269 [GRCh38]
Chr9:131709548 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1141A>G (p.Ile381Val) single nucleotide variant Cardiovascular phenotype [RCV003301640] Chr9:128946163 [GRCh38]
Chr9:131708442 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) single nucleotide variant Cardiovascular phenotype [RCV002384121]|DK1-congenital disorder of glycosylation [RCV000560278]|not specified [RCV000606924] Chr9:128945980 [GRCh38]
Chr9:131708259 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.101T>C (p.Ile34Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000557455] Chr9:128947203 [GRCh38]
Chr9:131709482 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.560G>T (p.Arg187Leu) single nucleotide variant Cardiovascular phenotype [RCV002343265]|DK1-congenital disorder of glycosylation [RCV000639753]|not provided [RCV000786301] Chr9:128946744 [GRCh38]
Chr9:131709023 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp) single nucleotide variant Cardiovascular phenotype [RCV004025589]|DK1-congenital disorder of glycosylation [RCV000639755] Chr9:128946063 [GRCh38]
Chr9:131708342 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1139G>A (p.Arg380His) single nucleotide variant Cardiovascular phenotype [RCV002458043]|DK1-congenital disorder of glycosylation [RCV000639761]|not provided [RCV003319388] Chr9:128946165 [GRCh38]
Chr9:131708444 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.114A>G (p.Val38=) single nucleotide variant Cardiovascular phenotype [RCV002458044]|DK1-congenital disorder of glycosylation [RCV000639765] Chr9:128947190 [GRCh38]
Chr9:131709469 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_014908.4(DOLK):c.907T>C (p.Tyr303His) single nucleotide variant Cardiovascular phenotype [RCV003301639] Chr9:128946397 [GRCh38]
Chr9:131708676 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.529C>T (p.Leu177Phe) single nucleotide variant Cardiovascular phenotype [RCV003301641] Chr9:128946775 [GRCh38]
Chr9:131709054 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) single nucleotide variant Cardiovascular phenotype [RCV002325140]|DK1-congenital disorder of glycosylation [RCV001215223]|not provided [RCV001584420]|not specified [RCV000614948] Chr9:128946981 [GRCh38]
Chr9:131709260 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.147C>G (p.Leu49=) single nucleotide variant not specified [RCV000615604] Chr9:128947157 [GRCh38]
Chr9:131709436 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) single nucleotide variant Cardiovascular phenotype [RCV002331032]|DK1-congenital disorder of glycosylation [RCV001057488]|not specified [RCV000612856] Chr9:128946870 [GRCh38]
Chr9:131709149 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1333C>A (p.Leu445Met) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000639756]|not provided [RCV001797118] Chr9:128945971 [GRCh38]
Chr9:131708250 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.560G>A (p.Arg187His) single nucleotide variant Cardiovascular phenotype [RCV004025590]|DK1-congenital disorder of glycosylation [RCV000639760] Chr9:128946744 [GRCh38]
Chr9:131709023 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1149T>C (p.Pro383=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000639766] Chr9:128946155 [GRCh38]
Chr9:131708434 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.407T>C (p.Val136Ala) single nucleotide variant Cardiovascular phenotype [RCV003302823]|DK1-congenital disorder of glycosylation [RCV000556297] Chr9:128946897 [GRCh38]
Chr9:131709176 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg) single nucleotide variant Cardiovascular phenotype [RCV002350263]|DK1-congenital disorder of glycosylation [RCV000530225]|DOLK-related disorder [RCV003925639]|not provided [RCV001712502] Chr9:128947252 [GRCh38]
Chr9:131709531 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.194A>G (p.Gln65Arg) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000639757] Chr9:128947110 [GRCh38]
Chr9:131709389 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_014908.4(DOLK):c.376T>G (p.Ser126Ala) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000698325] Chr9:128946928 [GRCh38]
Chr9:131709207 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1303G>C (p.Ala435Pro) single nucleotide variant Cardiovascular phenotype [RCV002386232]|DK1-congenital disorder of glycosylation [RCV000699301] Chr9:128946001 [GRCh38]
Chr9:131708280 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1165C>T (p.Arg389Trp) single nucleotide variant Cardiovascular phenotype [RCV002325438]|DK1-congenital disorder of glycosylation [RCV000707736] Chr9:128946139 [GRCh38]
Chr9:131708418 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp) single nucleotide variant Cardiovascular phenotype [RCV002440433]|DK1-congenital disorder of glycosylation [RCV000688325]|not provided [RCV004719946] Chr9:128947012 [GRCh38]
Chr9:131709291 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.288G>C (p.Lys96Asn) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000705666] Chr9:128947016 [GRCh38]
Chr9:131709295 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1373G>T (p.Gly458Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000689545] Chr9:128945931 [GRCh38]
Chr9:131708210 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_131707946)_(131709602_?)dup duplication DK1-congenital disorder of glycosylation [RCV000708504] Chr9:128945667..128947323 [GRCh38]
Chr9:131707946..131709602 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1532G>A (p.Ser511Asn) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000690188] Chr9:128945772 [GRCh38]
Chr9:131708051 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del) microsatellite DK1-congenital disorder of glycosylation [RCV000690952] Chr9:128946439..128946441 [GRCh38]
Chr9:131708718..131708720 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.429C>G (p.Ile143Met) single nucleotide variant Cardiovascular phenotype [RCV004025171]|DK1-congenital disorder of glycosylation [RCV000693846]|not provided [RCV002462034] Chr9:128946875 [GRCh38]
Chr9:131709154 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1129C>T (p.Arg377Cys) single nucleotide variant Cardiovascular phenotype [RCV004026707]|DK1-congenital disorder of glycosylation [RCV000705997] Chr9:128946175 [GRCh38]
Chr9:131708454 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met) single nucleotide variant Cardiovascular phenotype [RCV002422536]|DK1-congenital disorder of glycosylation [RCV000697187] Chr9:128946047 [GRCh38]
Chr9:131708326 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1 copy number loss not provided [RCV000748699] Chr9:131413885..133866894 [GRCh37]
Chr9:9q34.11-34.12		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_014908.4(DOLK):c.894C>T (p.Ile298=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000939349] Chr9:128946410 [GRCh38]
Chr9:131708689 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.12:g.128945506_128945509del deletion not provided [RCV001535255] Chr9:128945499..128945502 [GRCh38]
Chr9:131707778..131707781 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001068283] Chr9:128947101 [GRCh38]
Chr9:131709380 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1086C>T (p.Ala362=) single nucleotide variant Cardiovascular phenotype [RCV002427365]|DK1-congenital disorder of glycosylation [RCV000944727]|not provided [RCV003992425] Chr9:128946218 [GRCh38]
Chr9:131708497 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.909T>C (p.Tyr303=) single nucleotide variant Cardiovascular phenotype [RCV002445031]|DK1-congenital disorder of glycosylation [RCV000924809] Chr9:128946395 [GRCh38]
Chr9:131708674 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.387G>A (p.Ala129=) single nucleotide variant Cardiovascular phenotype [RCV002363324]|DK1-congenital disorder of glycosylation [RCV001465337] Chr9:128946917 [GRCh38]
Chr9:131709196 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1512T>C (p.Ala504=) single nucleotide variant Cardiovascular phenotype [RCV004619448]|DK1-congenital disorder of glycosylation [RCV000875850] Chr9:128945792 [GRCh38]
Chr9:131708071 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1527C>T (p.Ser509=) single nucleotide variant Cardiovascular phenotype [RCV004619472]|DK1-congenital disorder of glycosylation [RCV000983611] Chr9:128945777 [GRCh38]
Chr9:131708056 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.244T>C (p.Leu82=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001498022] Chr9:128947060 [GRCh38]
Chr9:131709339 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly) single nucleotide variant Cardiovascular phenotype [RCV002337095]|DK1-congenital disorder of glycosylation [RCV001037008] Chr9:128946114 [GRCh38]
Chr9:131708393 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001049343] Chr9:128947000 [GRCh38]
Chr9:131709279 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala) single nucleotide variant Cardiovascular phenotype [RCV002354990]|DK1-congenital disorder of glycosylation [RCV001038777] Chr9:128946145 [GRCh38]
Chr9:131708424 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp) single nucleotide variant Cardiovascular phenotype [RCV004031849]|DK1-congenital disorder of glycosylation [RCV001058581] Chr9:128946797 [GRCh38]
Chr9:131709076 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.379G>A (p.Val127Met) single nucleotide variant Cardiovascular phenotype [RCV002360908]|DK1-congenital disorder of glycosylation [RCV000791770] Chr9:128946925 [GRCh38]
Chr9:131709204 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_014908.4(DOLK):c.1092T>G (p.Thr364=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000873665] Chr9:128946212 [GRCh38]
Chr9:131708491 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.207C>T (p.Ala69=) single nucleotide variant Cardiovascular phenotype [RCV004029483]|DK1-congenital disorder of glycosylation [RCV002542173] Chr9:128947097 [GRCh38]
Chr9:131709376 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.288G>A (p.Lys96=) single nucleotide variant Cardiovascular phenotype [RCV002434188]|DK1-congenital disorder of glycosylation [RCV001418859] Chr9:128947016 [GRCh38]
Chr9:131709295 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1098C>T (p.Cys366=) single nucleotide variant Cardiovascular phenotype [RCV004029423]|DK1-congenital disorder of glycosylation [RCV000918067] Chr9:128946206 [GRCh38]
Chr9:131708485 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071) copy number loss not provided [RCV000767561] Chr9:131670024..134514071 [GRCh37]
Chr9:9q34.11-34.13		 likely pathogenic
NM_014908.4(DOLK):c.975C>T (p.Ser325=) single nucleotide variant Cardiovascular phenotype [RCV002382043]|DK1-congenital disorder of glycosylation [RCV000897547]|DOLK-related disorder [RCV003895475] Chr9:128946329 [GRCh38]
Chr9:131708608 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1011A>G (p.Arg337=) single nucleotide variant Cardiovascular phenotype [RCV002445085]|DK1-congenital disorder of glycosylation [RCV001421659]|not provided [RCV000942024] Chr9:128946293 [GRCh38]
Chr9:131708572 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_014908.4(DOLK):c.885C>T (p.Asp295=) single nucleotide variant Cardiovascular phenotype [RCV003169480]|DK1-congenital disorder of glycosylation [RCV001464416] Chr9:128946419 [GRCh38]
Chr9:131708698 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.33G>A (p.Gly11=) single nucleotide variant Cardiovascular phenotype [RCV002454023]|DK1-congenital disorder of glycosylation [RCV000872814]|DOLK-related disorder [RCV003955695] Chr9:128947271 [GRCh38]
Chr9:131709550 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1371C>T (p.Phe457=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002065459] Chr9:128945933 [GRCh38]
Chr9:131708212 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1087G>A (p.Ala363Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000809460] Chr9:128946217 [GRCh38]
Chr9:131708496 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.3(DOLK):c.-604T>C single nucleotide variant not provided [RCV000832790] Chr9:128947907 [GRCh38]
Chr9:131710186 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.164A>G (p.Tyr55Cys) single nucleotide variant Cardiovascular phenotype [RCV003166384]|DK1-congenital disorder of glycosylation [RCV000819355] Chr9:128947140 [GRCh38]
Chr9:131709419 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.313C>A (p.Pro105Thr) single nucleotide variant Cardiovascular phenotype [RCV002319923]|DK1-congenital disorder of glycosylation [RCV000823313] Chr9:128946991 [GRCh38]
Chr9:131709270 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1357G>C (p.Val453Leu) single nucleotide variant Cardiovascular phenotype [RCV004027456]|DK1-congenital disorder of glycosylation [RCV000793763] Chr9:128945947 [GRCh38]
Chr9:131708226 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.210C>G (p.Val70=) single nucleotide variant Cardiovascular phenotype [RCV004029210]|DK1-congenital disorder of glycosylation [RCV001165954]|not provided [RCV000830290] Chr9:128947094 [GRCh38]
Chr9:131709373 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.401G>A (p.Arg134His) single nucleotide variant Cardiovascular phenotype [RCV002352450]|DK1-congenital disorder of glycosylation [RCV000820176] Chr9:128946903 [GRCh38]
Chr9:131709182 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1422G>A (p.Glu474=) single nucleotide variant Cardiovascular phenotype [RCV003169070]|DK1-congenital disorder of glycosylation [RCV002536125]|not provided [RCV000840875] Chr9:128945882 [GRCh38]
Chr9:131708161 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys) single nucleotide variant Cardiovascular phenotype [RCV002372292]|DK1-congenital disorder of glycosylation [RCV000813534]|not provided [RCV004693352] Chr9:128946390 [GRCh38]
Chr9:131708669 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1462G>T (p.Ala488Ser) single nucleotide variant Cardiovascular phenotype [RCV002390642]|DK1-congenital disorder of glycosylation [RCV000811774] Chr9:128945842 [GRCh38]
Chr9:131708121 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_014908.4(DOLK):c.412A>G (p.Thr138Ala) single nucleotide variant Cardiovascular phenotype [RCV002332680]|DK1-congenital disorder of glycosylation [RCV000814159] Chr9:128946892 [GRCh38]
Chr9:131709171 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro) single nucleotide variant Cardiovascular phenotype [RCV002442643]|DK1-congenital disorder of glycosylation [RCV000798237] Chr9:128946042 [GRCh38]
Chr9:131708321 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) single nucleotide variant Cardiovascular phenotype [RCV002397659]|DK1-congenital disorder of glycosylation [RCV000808837]|DOLK-related disorder [RCV003413622] Chr9:128945746 [GRCh38]
Chr9:131708025 [GRCh37]
Chr9:9q34.11		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.*20G>A single nucleotide variant DK1-congenital disorder of glycosylation [RCV001167456] Chr9:128945667 [GRCh38]
Chr9:131707946 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.216G>T (p.Gln72His) single nucleotide variant Cardiovascular phenotype [RCV004030668]|DK1-congenital disorder of glycosylation [RCV001068246] Chr9:128947088 [GRCh38]
Chr9:131709367 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.18A>G (p.Pro6=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001165955] Chr9:128947286 [GRCh38]
Chr9:131709565 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.731dup (p.Phe245fs) duplication DK1-congenital disorder of glycosylation [RCV000806944] Chr9:128946572..128946573 [GRCh38]
Chr9:131708851..131708852 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_014908.3(DOLK):c.-543T>C single nucleotide variant not provided [RCV000835730] Chr9:128947846 [GRCh38]
Chr9:131710125 [GRCh37]
Chr9:9q34.11		 benign
NM_014908.4(DOLK):c.1290T>G (p.Gly430=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001168069] Chr9:128946014 [GRCh38]
Chr9:131708293 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.509T>G (p.Val170Gly) single nucleotide variant Cardiovascular phenotype [RCV002339616]|DK1-congenital disorder of glycosylation [RCV001226715] Chr9:128946795 [GRCh38]
Chr9:131709074 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001239429] Chr9:128946001 [GRCh38]
Chr9:131708280 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser) single nucleotide variant Cardiovascular phenotype [RCV004034683]|DK1-congenital disorder of glycosylation [RCV001241515] Chr9:128946919 [GRCh38]
Chr9:131709198 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu) single nucleotide variant Cardiovascular phenotype [RCV004619576]|DK1-congenital disorder of glycosylation [RCV001239739] Chr9:128947038 [GRCh38]
Chr9:131709317 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg) single nucleotide variant Cardiovascular phenotype [RCV002379823]|DK1-congenital disorder of glycosylation [RCV001218417] Chr9:128946016 [GRCh38]
Chr9:131708295 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001248157] Chr9:128946980 [GRCh38]
Chr9:131709259 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3 copy number gain not provided [RCV001006275] Chr9:131094304..131863858 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001168070] Chr9:128946108 [GRCh38]
Chr9:131708387 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.128945392G>C single nucleotide variant not provided [RCV001555519] Chr9:128945392 [GRCh38]
Chr9:131707671 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.12:g.128948062C>T single nucleotide variant not provided [RCV001687777] Chr9:128948062 [GRCh38]
Chr9:131710341 [GRCh37]
Chr9:9q34.11		 benign
NM_014908.4(DOLK):c.184C>A (p.Arg62=) single nucleotide variant Cardiovascular phenotype [RCV002409137]|DK1-congenital disorder of glycosylation [RCV001440798] Chr9:128947120 [GRCh38]
Chr9:131709399 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1221A>G (p.Thr407=) single nucleotide variant Cardiovascular phenotype [RCV002363440]|DK1-congenital disorder of glycosylation [RCV001453836] Chr9:128946083 [GRCh38]
Chr9:131708362 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.916C>T (p.Leu306=) single nucleotide variant Cardiovascular phenotype [RCV002372654]|DK1-congenital disorder of glycosylation [RCV001404584] Chr9:128946388 [GRCh38]
Chr9:131708667 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.501C>T (p.Val167=) single nucleotide variant Cardiovascular phenotype [RCV002336845]|DK1-congenital disorder of glycosylation [RCV000875048] Chr9:128946803 [GRCh38]
Chr9:131709082 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.177G>A (p.Lys59=) single nucleotide variant Cardiovascular phenotype [RCV002400022]|DK1-congenital disorder of glycosylation [RCV001447484] Chr9:128947127 [GRCh38]
Chr9:131709406 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.435C>T (p.Gly145=) single nucleotide variant Cardiovascular phenotype [RCV003307759]|DK1-congenital disorder of glycosylation [RCV001422429]|DOLK-related disorder [RCV003925960] Chr9:128946869 [GRCh38]
Chr9:131709148 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser) single nucleotide variant Cardiovascular phenotype [RCV002372742]|DK1-congenital disorder of glycosylation [RCV001035574] Chr9:128946585 [GRCh38]
Chr9:131708864 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser) single nucleotide variant Cardiovascular phenotype [RCV004032379]|DK1-congenital disorder of glycosylation [RCV001219993] Chr9:128947054 [GRCh38]
Chr9:131709333 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.-22G>A single nucleotide variant DK1-congenital disorder of glycosylation [RCV001165956] Chr9:128947325 [GRCh38]
Chr9:131709604 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.86C>T (p.Ala29Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001240511] Chr9:128947218 [GRCh38]
Chr9:131709497 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro) single nucleotide variant Cardiovascular phenotype [RCV002379795]|DK1-congenital disorder of glycosylation [RCV001209746] Chr9:128946021 [GRCh38]
Chr9:131708300 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1 copy number loss not provided [RCV001006274] Chr9:130957344..132310210 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.1557C>T (p.Tyr519=) single nucleotide variant Cardiovascular phenotype [RCV002400053]|DK1-congenital disorder of glycosylation [RCV000934887] Chr9:128945747 [GRCh38]
Chr9:131708026 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.964C>T (p.Arg322Trp) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001866074]|not provided [RCV001577492] Chr9:128946340 [GRCh38]
Chr9:131708619 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.128945509dup duplication not provided [RCV001550037] Chr9:128945498..128945499 [GRCh38]
Chr9:131707777..131707778 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.12:g.128945509del deletion not provided [RCV001555034] Chr9:128945499 [GRCh38]
Chr9:131707778 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.12:g.128947888G>A single nucleotide variant not provided [RCV001676682] Chr9:128947888 [GRCh38]
Chr9:131710167 [GRCh37]
Chr9:9q34.11		 benign
NM_014908.4(DOLK):c.621G>T (p.Gln207His) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001168839] Chr9:128946683 [GRCh38]
Chr9:131708962 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.(?_128945677)_(128947313_?)dup duplication DK1-congenital disorder of glycosylation [RCV001033534] Chr9:131707956..131709592 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.523G>A (p.Val175Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001068177] Chr9:128946781 [GRCh38]
Chr9:131709060 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs) deletion DK1-congenital disorder of glycosylation [RCV001212448] Chr9:128946058..128946059 [GRCh38]
Chr9:131708337..131708338 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.3(DOLK):c.-335G>C single nucleotide variant DK1-congenital disorder of glycosylation [RCV001167522] Chr9:128947638 [GRCh38]
Chr9:131709917 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr) single nucleotide variant Cardiovascular phenotype [RCV004033507]|DK1-congenital disorder of glycosylation [RCV001201732] Chr9:128946298 [GRCh38]
Chr9:131708577 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp) single nucleotide variant Cardiovascular phenotype [RCV004031103]|DK1-congenital disorder of glycosylation [RCV001039390] Chr9:128946815 [GRCh38]
Chr9:131709094 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.839G>A (p.Arg280His) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001232727]|not provided [RCV004774331] Chr9:128946465 [GRCh38]
Chr9:131708744 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.603T>G (p.Ile201Met) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001208122] Chr9:128946701 [GRCh38]
Chr9:131708980 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln) single nucleotide variant Cardiovascular phenotype [RCV002372768]|DK1-congenital disorder of glycosylation [RCV001040355]|not provided [RCV004693477] Chr9:128947296 [GRCh38]
Chr9:131709575 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.275G>C (p.Gly92Ala) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001168840] Chr9:128947029 [GRCh38]
Chr9:131709308 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001202638] Chr9:128946445 [GRCh38]
Chr9:131708724 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.702G>C (p.Met234Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001062665] Chr9:128946602 [GRCh38]
Chr9:131708881 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.-211C>T single nucleotide variant DK1-congenital disorder of glycosylation [RCV001167521] Chr9:128947514 [GRCh38]
Chr9:131709793 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr) single nucleotide variant Cardiovascular phenotype [RCV002400226]|DK1-congenital disorder of glycosylation [RCV001038132]|not provided [RCV001805983] Chr9:128945736 [GRCh38]
Chr9:131708015 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001063812] Chr9:128947132 [GRCh38]
Chr9:131709411 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile) single nucleotide variant Cardiovascular phenotype [RCV004619610]|DK1-congenital disorder of glycosylation [RCV001304518] Chr9:128945989 [GRCh38]
Chr9:131708268 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1381A>G (p.Met461Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001300260]|not provided [RCV004727099] Chr9:128945923 [GRCh38]
Chr9:131708202 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.684GGT[2] (p.Val232del) microsatellite DK1-congenital disorder of glycosylation [RCV001301228] Chr9:128946612..128946614 [GRCh38]
Chr9:131708891..131708893 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1227C>G (p.Ile409Met) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001317379] Chr9:128946077 [GRCh38]
Chr9:131708356 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.122G>A (p.Arg41Gln) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001325510] Chr9:128947182 [GRCh38]
Chr9:131709461 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1312C>T (p.Leu438Phe) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001316734] Chr9:128945992 [GRCh38]
Chr9:131708271 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001342568] Chr9:128945776 [GRCh38]
Chr9:131708055 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe) single nucleotide variant Cardiovascular phenotype [RCV002327648]|DK1-congenital disorder of glycosylation [RCV001300746] Chr9:128946872 [GRCh38]
Chr9:131709151 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1224_1225del (p.Ile409fs) microsatellite DK1-congenital disorder of glycosylation [RCV001339266] Chr9:128946079..128946080 [GRCh38]
Chr9:131708358..131708359 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001314485] Chr9:128946295 [GRCh38]
Chr9:131708574 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:131282528-131720659)x3 copy number gain not provided [RCV001270669] Chr9:131282528..131720659 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001358927] Chr9:128945880 [GRCh38]
Chr9:131708159 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001327356] Chr9:128946239 [GRCh38]
Chr9:131708518 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001369576] Chr9:128946246 [GRCh38]
Chr9:131708525 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.380T>C (p.Val127Ala) single nucleotide variant Cardiovascular phenotype [RCV004038114]|DK1-congenital disorder of glycosylation [RCV001414429]|not provided [RCV001773747] Chr9:128946924 [GRCh38]
Chr9:131709203 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs) deletion Cardiovascular phenotype [RCV002350719]|DK1-congenital disorder of glycosylation [RCV001373869] Chr9:128946102..128946103 [GRCh38]
Chr9:131708381..131708382 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_014908.4(DOLK):c.534C>A (p.Asn178Lys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001343424] Chr9:128946770 [GRCh38]
Chr9:131709049 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.34C>A (p.Pro12Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001369347] Chr9:128947270 [GRCh38]
Chr9:131709549 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys) single nucleotide variant Cardiovascular phenotype [RCV002322338]|DK1-congenital disorder of glycosylation [RCV001364150] Chr9:128946166 [GRCh38]
Chr9:131708445 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.-15C>T single nucleotide variant DK1-congenital disorder of glycosylation [RCV001336216] Chr9:128947318 [GRCh38]
Chr9:131709597 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile) single nucleotide variant Cardiovascular phenotype [RCV002395727]|DK1-congenital disorder of glycosylation [RCV001327240] Chr9:128945873 [GRCh38]
Chr9:131708152 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1267C>T (p.Pro423Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001318588] Chr9:128946037 [GRCh38]
Chr9:131708316 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.128C>T (p.Ser43Leu) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001364857] Chr9:128947176 [GRCh38]
Chr9:131709455 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001324125] Chr9:128945902 [GRCh38]
Chr9:131708181 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu) single nucleotide variant Cardiovascular phenotype [RCV002375391]|DK1-congenital disorder of glycosylation [RCV001309863]|not provided [RCV004727121] Chr9:128946428 [GRCh38]
Chr9:131708707 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.572C>G (p.Pro191Arg) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001352338] Chr9:128946732 [GRCh38]
Chr9:131709011 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu) single nucleotide variant Cardiovascular phenotype [RCV002393730]|DK1-congenital disorder of glycosylation [RCV001307726] Chr9:128945885 [GRCh38]
Chr9:131708164 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.977A>T (p.Glu326Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001322118] Chr9:128946327 [GRCh38]
Chr9:131708606 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1275del (p.Cys426fs) deletion Cardiovascular phenotype [RCV002377477]|DK1-congenital disorder of glycosylation [RCV001347449] Chr9:128946029 [GRCh38]
Chr9:131708308 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001323378] Chr9:128945814 [GRCh38]
Chr9:131708093 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.758G>C (p.Trp253Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001359469] Chr9:128946546 [GRCh38]
Chr9:131708825 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.187C>G (p.Leu63Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001343010] Chr9:128947117 [GRCh38]
Chr9:131709396 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1235T>C (p.Leu412Pro) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001308513] Chr9:128946069 [GRCh38]
Chr9:131708348 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.888C>G (p.Thr296=) single nucleotide variant Cardiovascular phenotype [RCV002377595]|DK1-congenital disorder of glycosylation [RCV001396175] Chr9:128946416 [GRCh38]
Chr9:131708695 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001306968] Chr9:128946396 [GRCh38]
Chr9:131708675 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.463A>T (p.Met155Leu) single nucleotide variant Cardiovascular phenotype [RCV002329268]|DK1-congenital disorder of glycosylation [RCV001315587] Chr9:128946841 [GRCh38]
Chr9:131709120 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001371264] Chr9:128947056 [GRCh38]
Chr9:131709335 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser) single nucleotide variant Cardiovascular phenotype [RCV002357173]|DK1-congenital disorder of glycosylation [RCV001337150] Chr9:128946304 [GRCh38]
Chr9:131708583 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.589G>A (p.Val197Ile) single nucleotide variant Cardiovascular phenotype [RCV002357248]|DK1-congenital disorder of glycosylation [RCV001367584]|not provided [RCV004692650] Chr9:128946715 [GRCh38]
Chr9:131708994 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_131707956)_(131709592_?)dup duplication Congenital disorder of glycosylation type 1M [RCV001316313] Chr9:131707956..131709592 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.387G>C (p.Ala129=) single nucleotide variant Cardiovascular phenotype [RCV002368455]|DK1-congenital disorder of glycosylation [RCV001475177] Chr9:128946917 [GRCh38]
Chr9:131709196 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.747C>T (p.Asp249=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001469061] Chr9:128946557 [GRCh38]
Chr9:131708836 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1068G>A (p.Arg356=) single nucleotide variant Cardiovascular phenotype [RCV002413979]|DK1-congenital disorder of glycosylation [RCV001411680] Chr9:128946236 [GRCh38]
Chr9:131708515 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.24G>A (p.Pro8=) single nucleotide variant Cardiovascular phenotype [RCV002432089]|DK1-congenital disorder of glycosylation [RCV001394337] Chr9:128947280 [GRCh38]
Chr9:131709559 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1176G>T (p.Leu392=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001430332] Chr9:128946128 [GRCh38]
Chr9:131708407 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1359G>A (p.Val453=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001410058] Chr9:128945945 [GRCh38]
Chr9:131708224 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1395C>T (p.Arg465=) single nucleotide variant Cardiovascular phenotype [RCV004038421]|DK1-congenital disorder of glycosylation [RCV001443874] Chr9:128945909 [GRCh38]
Chr9:131708188 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.999C>T (p.Pro333=) single nucleotide variant Cardiovascular phenotype [RCV004038377]|DK1-congenital disorder of glycosylation [RCV001439931] Chr9:128946305 [GRCh38]
Chr9:131708584 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.426C>T (p.Val142=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001445159] Chr9:128946878 [GRCh38]
Chr9:131709157 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.679C>T (p.Leu227=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001393790] Chr9:128946625 [GRCh38]
Chr9:131708904 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1005C>T (p.Ile335=) single nucleotide variant Cardiovascular phenotype [RCV002414024]|DK1-congenital disorder of glycosylation [RCV001431867] Chr9:128946299 [GRCh38]
Chr9:131708578 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1434A>G (p.Thr478=) single nucleotide variant Cardiovascular phenotype [RCV002396038]|DK1-congenital disorder of glycosylation [RCV001448038] Chr9:128945870 [GRCh38]
Chr9:131708149 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.90G>A (p.Val30=) single nucleotide variant Cardiovascular phenotype [RCV002377625]|DK1-congenital disorder of glycosylation [RCV001406369]|not provided [RCV004546649] Chr9:128947214 [GRCh38]
Chr9:131709493 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1107C>T (p.Val369=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001445750] Chr9:128946197 [GRCh38]
Chr9:131708476 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.819C>T (p.Pro273=) single nucleotide variant Cardiovascular phenotype [RCV002432346]|DK1-congenital disorder of glycosylation [RCV001479497] Chr9:128946485 [GRCh38]
Chr9:131708764 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1380C>T (p.Thr460=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001453232] Chr9:128945924 [GRCh38]
Chr9:131708203 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.129G>C (p.Ser43=) single nucleotide variant Cardiovascular phenotype [RCV002384716]|DK1-congenital disorder of glycosylation [RCV001456914] Chr9:128947175 [GRCh38]
Chr9:131709454 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1362C>T (p.Ala454=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001436168] Chr9:128945942 [GRCh38]
Chr9:131708221 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1143C>T (p.Ile381=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001476460] Chr9:128946161 [GRCh38]
Chr9:131708440 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1597C>T (p.Leu533=) single nucleotide variant Cardiovascular phenotype [RCV003161022]|DK1-congenital disorder of glycosylation [RCV001503946] Chr9:128945707 [GRCh38]
Chr9:131707986 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NM_014908.4(DOLK):c.537G>C (p.Met179Ile) single nucleotide variant not provided [RCV001767408] Chr9:128946767 [GRCh38]
Chr9:131709046 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly) single nucleotide variant Cardiovascular phenotype [RCV003163908]|DK1-congenital disorder of glycosylation [RCV001771757]|not provided [RCV003238031]|not specified [RCV003479350] Chr9:128946979 [GRCh38]
Chr9:131709258 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.508G>T (p.Val170Phe) single nucleotide variant not provided [RCV001800128] Chr9:128946796 [GRCh38]
Chr9:131709075 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.22C>T (p.Pro8Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001868470]|not provided [RCV001758365] Chr9:128947282 [GRCh38]
Chr9:131709561 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1112T>A (p.Ile371Asn) single nucleotide variant not provided [RCV001822169] Chr9:128946192 [GRCh38]
Chr9:131708471 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_014908.4(DOLK):c.202A>T (p.Ser68Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001895970] Chr9:128947102 [GRCh38]
Chr9:131709381 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.910T>C (p.Trp304Arg) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002045283] Chr9:128946394 [GRCh38]
Chr9:131708673 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.136G>A (p.Ala46Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001985598] Chr9:128947168 [GRCh38]
Chr9:131709447 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1578_1580del (p.Leu528del) deletion DK1-congenital disorder of glycosylation [RCV001895999] Chr9:128945724..128945726 [GRCh38]
Chr9:131708003..131708005 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.156G>C (p.Gln52His) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001929644] Chr9:128947148 [GRCh38]
Chr9:131709427 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.106G>A (p.Ala36Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001927525] Chr9:128947198 [GRCh38]
Chr9:131709477 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.472T>A (p.Ser158Thr) single nucleotide variant Cardiovascular phenotype [RCV003164191]|DK1-congenital disorder of glycosylation [RCV001874463] Chr9:128946832 [GRCh38]
Chr9:131709111 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.464T>C (p.Met155Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002045430] Chr9:128946840 [GRCh38]
Chr9:131709119 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe) single nucleotide variant Cardiovascular phenotype [RCV002397976]|DK1-congenital disorder of glycosylation [RCV001967779] Chr9:128945710 [GRCh38]
Chr9:131707989 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_014908.4(DOLK):c.64G>A (p.Ala22Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002005026] Chr9:128947240 [GRCh38]
Chr9:131709519 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
NM_014908.4(DOLK):c.656del (p.Gln219fs) deletion DK1-congenital disorder of glycosylation [RCV002022442] Chr9:128946648 [GRCh38]
Chr9:131708927 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1126G>A (p.Val376Met) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001984480] Chr9:128946178 [GRCh38]
Chr9:131708457 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1090_1099del (p.Thr364fs) deletion DK1-congenital disorder of glycosylation [RCV002023284] Chr9:128946205..128946214 [GRCh38]
Chr9:131708484..131708493 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.771C>G (p.Ile257Met) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002003102] Chr9:128946533 [GRCh38]
Chr9:131708812 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.787A>T (p.Thr263Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001984447] Chr9:128946517 [GRCh38]
Chr9:131708796 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1383G>C (p.Met461Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002023946] Chr9:128945921 [GRCh38]
Chr9:131708200 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.470A>C (p.His157Pro) single nucleotide variant Cardiovascular phenotype [RCV004039140]|DK1-congenital disorder of glycosylation [RCV001891038] Chr9:128946834 [GRCh38]
Chr9:131709113 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:130390139-132760275) copy number loss not specified [RCV002052848] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.493A>G (p.Ile165Val) single nucleotide variant Cardiovascular phenotype [RCV002337158]|DK1-congenital disorder of glycosylation [RCV002041217] Chr9:128946811 [GRCh38]
Chr9:131709090 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1300G>A (p.Gly434Arg) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001890019] Chr9:128946004 [GRCh38]
Chr9:131708283 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1429A>G (p.Met477Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001890055] Chr9:128945875 [GRCh38]
Chr9:131708154 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1509T>C (p.Tyr503=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001958881] Chr9:128945795 [GRCh38]
Chr9:131708074 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.325C>T (p.Arg109Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001870543] Chr9:128946979 [GRCh38]
Chr9:131709258 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.490G>A (p.Val164Met) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001925498] Chr9:128946814 [GRCh38]
Chr9:131709093 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1010G>A (p.Arg337Gln) single nucleotide variant Cardiovascular phenotype [RCV002324257]|DK1-congenital disorder of glycosylation [RCV001944659] Chr9:128946294 [GRCh38]
Chr9:131708573 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1273C>T (p.Pro425Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001944626] Chr9:128946031 [GRCh38]
Chr9:131708310 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1229A>T (p.Tyr410Phe) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001905474] Chr9:128946075 [GRCh38]
Chr9:131708354 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1197A>G (p.Arg399=) single nucleotide variant Cardiovascular phenotype [RCV002334923]|DK1-congenital disorder of glycosylation [RCV001944374] Chr9:128946107 [GRCh38]
Chr9:131708386 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.581C>T (p.Ala194Val) single nucleotide variant Cardiovascular phenotype [RCV002359332]|DK1-congenital disorder of glycosylation [RCV001877798] Chr9:128946723 [GRCh38]
Chr9:131709002 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.143C>T (p.Ala48Val) single nucleotide variant Cardiovascular phenotype [RCV003170053]|DK1-congenital disorder of glycosylation [RCV001978971] Chr9:128947161 [GRCh38]
Chr9:131709440 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs) duplication Cardiovascular phenotype [RCV004045453]|DK1-congenital disorder of glycosylation [RCV002015061] Chr9:128945970..128945971 [GRCh38]
Chr9:131708249..131708250 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1535C>T (p.Thr512Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001879512] Chr9:128945769 [GRCh38]
Chr9:131708048 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.460A>G (p.Ile154Val) single nucleotide variant Cardiovascular phenotype [RCV004042886]|DK1-congenital disorder of glycosylation [RCV001955114] Chr9:128946844 [GRCh38]
Chr9:131709123 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1270A>G (p.Arg424Gly) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002027860] Chr9:128946034 [GRCh38]
Chr9:131708313 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.565T>A (p.Phe189Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001942584] Chr9:128946739 [GRCh38]
Chr9:131709018 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1569_1570insAATCT (p.Asp524fs) insertion DK1-congenital disorder of glycosylation [RCV001943746] Chr9:128945734..128945735 [GRCh38]
Chr9:131708013..131708014 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1522G>T (p.Gly508Trp) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002050894] Chr9:128945782 [GRCh38]
Chr9:131708061 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.263T>C (p.Met88Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002047030] Chr9:128947041 [GRCh38]
Chr9:131709320 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.829C>T (p.Arg277Trp) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001930147] Chr9:128946475 [GRCh38]
Chr9:131708754 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.481G>T (p.Val161Leu) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001931644] Chr9:128946823 [GRCh38]
Chr9:131709102 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.993G>C (p.Gln331His) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002029905] Chr9:128946311 [GRCh38]
Chr9:131708590 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1457C>T (p.Ser486Phe) single nucleotide variant Cardiovascular phenotype [RCV004046220]|DK1-congenital disorder of glycosylation [RCV002013539] Chr9:128945847 [GRCh38]
Chr9:131708126 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.620A>C (p.Gln207Pro) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002030206] Chr9:128946684 [GRCh38]
Chr9:131708963 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.521T>G (p.Phe174Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001954288] Chr9:128946783 [GRCh38]
Chr9:131709062 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1284G>C (p.Gln428His) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001883298] Chr9:128946020 [GRCh38]
Chr9:131708299 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1413G>C (p.Lys471Asn) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001905832] Chr9:128945891 [GRCh38]
Chr9:131708170 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1445C>T (p.Ala482Val) single nucleotide variant Cardiovascular phenotype [RCV002388707]|DK1-congenital disorder of glycosylation [RCV002049528] Chr9:128945859 [GRCh38]
Chr9:131708138 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1069C>T (p.Pro357Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002017793] Chr9:128946235 [GRCh38]
Chr9:131708514 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.736G>C (p.Val246Leu) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001977046] Chr9:128946568 [GRCh38]
Chr9:131708847 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1579C>T (p.Leu527Phe) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001937397] Chr9:128945725 [GRCh38]
Chr9:131708004 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.962A>G (p.Lys321Arg) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001904822] Chr9:128946342 [GRCh38]
Chr9:131708621 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_131707966)_(131709582_?)dup duplication DK1-congenital disorder of glycosylation [RCV001922968] Chr9:131707966..131709582 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1372G>A (p.Gly458Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001886027] Chr9:128945932 [GRCh38]
Chr9:131708211 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1541C>G (p.Ser514Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001878433] Chr9:128945763 [GRCh38]
Chr9:131708042 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.175A>G (p.Lys59Glu) single nucleotide variant Cardiovascular phenotype [RCV003375563]|DK1-congenital disorder of glycosylation [RCV002034354] Chr9:128947129 [GRCh38]
Chr9:131709408 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.325C>A (p.Arg109Ser) single nucleotide variant Cardiovascular phenotype [RCV003161227]|DK1-congenital disorder of glycosylation [RCV002018399] Chr9:128946979 [GRCh38]
Chr9:131709258 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.409C>T (p.Pro137Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001924825] Chr9:128946895 [GRCh38]
Chr9:131709174 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.968C>T (p.Ser323Leu) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001905755] Chr9:128946336 [GRCh38]
Chr9:131708615 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1249C>T (p.Leu417Phe) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002050464] Chr9:128946055 [GRCh38]
Chr9:131708334 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.448G>T (p.Val150Phe) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001937051] Chr9:128946856 [GRCh38]
Chr9:131709135 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.967T>C (p.Ser323Pro) single nucleotide variant Cardiovascular phenotype [RCV002370419]|DK1-congenital disorder of glycosylation [RCV001900708] Chr9:128946337 [GRCh38]
Chr9:131708616 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.374del (p.Ser125fs) deletion Cardiovascular phenotype [RCV002361247]|DK1-congenital disorder of glycosylation [RCV001954710] Chr9:128946930 [GRCh38]
Chr9:131709209 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_014908.4(DOLK):c.1330G>A (p.Val444Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001880299] Chr9:128945974 [GRCh38]
Chr9:131708253 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.148G>A (p.Ala50Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002015269] Chr9:128947156 [GRCh38]
Chr9:131709435 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.302C>T (p.Thr101Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002051132] Chr9:128947002 [GRCh38]
Chr9:131709281 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.693A>G (p.Val231=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002145056] Chr9:128946611 [GRCh38]
Chr9:131708890 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.816A>G (p.Leu272=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002128186] Chr9:128946488 [GRCh38]
Chr9:131708767 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.915T>C (p.Ser305=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002085673] Chr9:128946389 [GRCh38]
Chr9:131708668 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.45G>T (p.Pro15=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002105643] Chr9:128947259 [GRCh38]
Chr9:131709538 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1176G>A (p.Leu392=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002191066] Chr9:128946128 [GRCh38]
Chr9:131708407 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.390C>G (p.Leu130=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002205163] Chr9:128946914 [GRCh38]
Chr9:131709193 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.699G>T (p.Gly233=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002171020] Chr9:128946605 [GRCh38]
Chr9:131708884 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.906C>T (p.Ala302=) single nucleotide variant Cardiovascular phenotype [RCV003161513]|DK1-congenital disorder of glycosylation [RCV002117321] Chr9:128946398 [GRCh38]
Chr9:131708677 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.48G>C (p.Leu16=) single nucleotide variant Cardiovascular phenotype [RCV003303730]|DK1-congenital disorder of glycosylation [RCV002197537] Chr9:128947256 [GRCh38]
Chr9:131709535 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1491G>A (p.Val497=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002096526] Chr9:128945813 [GRCh38]
Chr9:131708092 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.708C>T (p.Leu236=) single nucleotide variant Cardiovascular phenotype [RCV004616981]|DK1-congenital disorder of glycosylation [RCV002211947] Chr9:128946596 [GRCh38]
Chr9:131708875 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.46C>T (p.Leu16=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002215132] Chr9:128947258 [GRCh38]
Chr9:131709537 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.339G>A (p.Val113=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002149479] Chr9:128946965 [GRCh38]
Chr9:131709244 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.453C>T (p.Ile151=) single nucleotide variant Cardiovascular phenotype [RCV002337171]|DK1-congenital disorder of glycosylation [RCV002096952]|DOLK-related disorder [RCV003911165] Chr9:128946851 [GRCh38]
Chr9:131709130 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1326C>T (p.Ala442=) single nucleotide variant Cardiovascular phenotype [RCV004046632]|DK1-congenital disorder of glycosylation [RCV002148374] Chr9:128945978 [GRCh38]
Chr9:131708257 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.534C>T (p.Asn178=) single nucleotide variant Cardiovascular phenotype [RCV002346494]|DK1-congenital disorder of glycosylation [RCV002114923] Chr9:128946770 [GRCh38]
Chr9:131709049 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.27C>G (p.Ala9=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002173423] Chr9:128947277 [GRCh38]
Chr9:131709556 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.924C>T (p.Ala308=) single nucleotide variant Cardiovascular phenotype [RCV002373027]|DK1-congenital disorder of glycosylation [RCV002181603] Chr9:128946380 [GRCh38]
Chr9:131708659 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.522C>T (p.Phe174=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002178882] Chr9:128946782 [GRCh38]
Chr9:131709061 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.231A>G (p.Ala77=) single nucleotide variant Cardiovascular phenotype [RCV003375579]|DK1-congenital disorder of glycosylation [RCV002099978] Chr9:128947073 [GRCh38]
Chr9:131709352 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1167G>C (p.Arg389=) single nucleotide variant Cardiovascular phenotype [RCV002331829]|DK1-congenital disorder of glycosylation [RCV002178379] Chr9:128946137 [GRCh38]
Chr9:131708416 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.94C>T (p.Leu32=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002122177] Chr9:128947210 [GRCh38]
Chr9:131709489 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1059C>T (p.Ile353=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002220031] Chr9:128946245 [GRCh38]
Chr9:131708524 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.843G>A (p.Arg281=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002101559] Chr9:128946461 [GRCh38]
Chr9:131708740 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1525T>G (p.Ser509Ala) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003116258] Chr9:128945779 [GRCh38]
Chr9:131708058 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NM_014908.4(DOLK):c.1105G>A (p.Val369Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003146846] Chr9:128946199 [GRCh38]
Chr9:131708478 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1327G>A (p.Gly443Ser) single nucleotide variant Cardiovascular phenotype [RCV003375615]|DK1-congenital disorder of glycosylation [RCV003101654]|not provided [RCV002290948] Chr9:128945977 [GRCh38]
Chr9:131708256 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.743T>C (p.Met248Thr) single nucleotide variant Cardiovascular phenotype [RCV002385070]|DK1-congenital disorder of glycosylation [RCV003099638] Chr9:128946561 [GRCh38]
Chr9:131708840 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1320C>G (p.Pro440=) single nucleotide variant Cardiovascular phenotype [RCV002385675]|DK1-congenital disorder of glycosylation [RCV003103644] Chr9:128945984 [GRCh38]
Chr9:131708263 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1230C>T (p.Tyr410=) single nucleotide variant Cardiovascular phenotype [RCV002369367] Chr9:128946074 [GRCh38]
Chr9:131708353 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1104G>A (p.Ala368=) single nucleotide variant Cardiovascular phenotype [RCV002452816] Chr9:128946200 [GRCh38]
Chr9:131708479 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1282C>G (p.Gln428Glu) single nucleotide variant Cardiovascular phenotype [RCV002387214] Chr9:128946022 [GRCh38]
Chr9:131708301 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.709A>G (p.Met237Val) single nucleotide variant Cardiovascular phenotype [RCV002367313] Chr9:128946595 [GRCh38]
Chr9:131708874 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1229A>G (p.Tyr410Cys) single nucleotide variant Cardiovascular phenotype [RCV002367109] Chr9:128946075 [GRCh38]
Chr9:131708354 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.549C>T (p.Tyr183=) single nucleotide variant Cardiovascular phenotype [RCV002351593]|DK1-congenital disorder of glycosylation [RCV003096769] Chr9:128946755 [GRCh38]
Chr9:131709034 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1110C>T (p.Phe370=) single nucleotide variant Cardiovascular phenotype [RCV002437434]|DK1-congenital disorder of glycosylation [RCV003495308] Chr9:128946194 [GRCh38]
Chr9:131708473 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.495C>T (p.Ile165=) single nucleotide variant Cardiovascular phenotype [RCV002351327] Chr9:128946809 [GRCh38]
Chr9:131709088 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1505G>C (p.Ser502Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003146847] Chr9:128945799 [GRCh38]
Chr9:131708078 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1205G>C (p.Gly402Ala) single nucleotide variant Cardiovascular phenotype [RCV002345009] Chr9:128946099 [GRCh38]
Chr9:131708378 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.277C>G (p.Leu93Val) single nucleotide variant Cardiovascular phenotype [RCV002439707]|DK1-congenital disorder of glycosylation [RCV003102207] Chr9:128947027 [GRCh38]
Chr9:131709306 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.606C>T (p.Ser202=) single nucleotide variant Cardiovascular phenotype [RCV002358359] Chr9:128946698 [GRCh38]
Chr9:131708977 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1508A>G (p.Tyr503Cys) single nucleotide variant Cardiovascular phenotype [RCV002390033] Chr9:128945796 [GRCh38]
Chr9:131708075 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1066C>T (p.Arg356Trp) single nucleotide variant Cardiovascular phenotype [RCV002415296]|DK1-congenital disorder of glycosylation [RCV003097322] Chr9:128946238 [GRCh38]
Chr9:131708517 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.791G>T (p.Cys264Phe) single nucleotide variant Cardiovascular phenotype [RCV002416729] Chr9:128946513 [GRCh38]
Chr9:131708792 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.991C>T (p.Gln331Ter) single nucleotide variant Cardiovascular phenotype [RCV002382829] Chr9:128946313 [GRCh38]
Chr9:131708592 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_014908.4(DOLK):c.1510G>A (p.Ala504Thr) single nucleotide variant Cardiovascular phenotype [RCV002392204] Chr9:128945794 [GRCh38]
Chr9:131708073 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.390C>T (p.Leu130=) single nucleotide variant Cardiovascular phenotype [RCV002357507]|DK1-congenital disorder of glycosylation [RCV003120915] Chr9:128946914 [GRCh38]
Chr9:131709193 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.322G>C (p.Glu108Gln) single nucleotide variant Cardiovascular phenotype [RCV002324727] Chr9:128946982 [GRCh38]
Chr9:131709261 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1356T>C (p.Thr452=) single nucleotide variant Cardiovascular phenotype [RCV002383371] Chr9:128945948 [GRCh38]
Chr9:131708227 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1586C>T (p.Pro529Leu) single nucleotide variant Cardiovascular phenotype [RCV002398318] Chr9:128945718 [GRCh38]
Chr9:131707997 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.41C>T (p.Ala14Val) single nucleotide variant Cardiovascular phenotype [RCV002327853] Chr9:128947263 [GRCh38]
Chr9:131709542 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.681G>A (p.Leu227=) single nucleotide variant Cardiovascular phenotype [RCV002369591] Chr9:128946623 [GRCh38]
Chr9:131708902 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1503_1504insTTGGTCCATCC (p.Ser502fs) insertion Cardiovascular phenotype [RCV002389961] Chr9:128945800..128945801 [GRCh38]
Chr9:131708079..131708080 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.452T>C (p.Ile151Thr) single nucleotide variant Cardiovascular phenotype [RCV002340047] Chr9:128946852 [GRCh38]
Chr9:131709131 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.225G>A (p.Met75Ile) single nucleotide variant Cardiovascular phenotype [RCV002443699] Chr9:128947079 [GRCh38]
Chr9:131709358 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.698G>A (p.Gly233Glu) single nucleotide variant Cardiovascular phenotype [RCV002364671] Chr9:128946606 [GRCh38]
Chr9:131708885 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.219C>T (p.Phe73=) single nucleotide variant Cardiovascular phenotype [RCV002425654] Chr9:128947085 [GRCh38]
Chr9:131709364 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.847C>T (p.Pro283Ser) single nucleotide variant Cardiovascular phenotype [RCV002447623] Chr9:128946457 [GRCh38]
Chr9:131708736 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1113C>T (p.Ile371=) single nucleotide variant Cardiovascular phenotype [RCV002439464] Chr9:128946191 [GRCh38]
Chr9:131708470 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.728C>T (p.Thr243Ile) single nucleotide variant Cardiovascular phenotype [RCV002382671] Chr9:128946576 [GRCh38]
Chr9:131708855 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1391T>G (p.Ile464Ser) single nucleotide variant Cardiovascular phenotype [RCV002389042] Chr9:128945913 [GRCh38]
Chr9:131708192 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.922G>A (p.Ala308Thr) single nucleotide variant Cardiovascular phenotype [RCV002371318] Chr9:128946382 [GRCh38]
Chr9:131708661 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.520T>C (p.Phe174Leu) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002301537] Chr9:128946784 [GRCh38]
Chr9:131709063 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.632G>A (p.Arg211His) single nucleotide variant Cardiovascular phenotype [RCV002354024] Chr9:128946672 [GRCh38]
Chr9:131708951 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.280G>A (p.Val94Ile) single nucleotide variant Cardiovascular phenotype [RCV002441692] Chr9:128947024 [GRCh38]
Chr9:131709303 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.731T>A (p.Leu244Gln) single nucleotide variant Cardiovascular phenotype [RCV002380102] Chr9:128946573 [GRCh38]
Chr9:131708852 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.732G>A (p.Leu244=) single nucleotide variant Cardiovascular phenotype [RCV002380157]|DK1-congenital disorder of glycosylation [RCV003098545] Chr9:128946572 [GRCh38]
Chr9:131708851 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1110C>A (p.Phe370Leu) single nucleotide variant Cardiovascular phenotype [RCV002429033] Chr9:128946194 [GRCh38]
Chr9:131708473 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1569A>G (p.Ile523Met) single nucleotide variant Cardiovascular phenotype [RCV002405582] Chr9:128945735 [GRCh38]
Chr9:131708014 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.170A>G (p.Gln57Arg) single nucleotide variant Cardiovascular phenotype [RCV002398857] Chr9:128947134 [GRCh38]
Chr9:131709413 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.650A>G (p.Glu217Gly) single nucleotide variant Cardiovascular phenotype [RCV002356291] Chr9:128946654 [GRCh38]
Chr9:131708933 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.87A>G (p.Ala29=) single nucleotide variant Cardiovascular phenotype [RCV002449782] Chr9:128947217 [GRCh38]
Chr9:131709496 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.59T>G (p.Val20Gly) single nucleotide variant Cardiovascular phenotype [RCV002357960]|DK1-congenital disorder of glycosylation [RCV003098097] Chr9:128947245 [GRCh38]
Chr9:131709524 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.999C>A (p.Pro333=) single nucleotide variant Cardiovascular phenotype [RCV002383060] Chr9:128946305 [GRCh38]
Chr9:131708584 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.446G>A (p.Gly149Asp) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003032337] Chr9:128946858 [GRCh38]
Chr9:131709137 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.113T>C (p.Val38Ala) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003095356] Chr9:128947191 [GRCh38]
Chr9:131709470 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1574A>G (p.Asn525Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003074278] Chr9:128945730 [GRCh38]
Chr9:131708009 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.61C>T (p.Leu21=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003012391] Chr9:128947243 [GRCh38]
Chr9:131709522 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.15C>T (p.Cys5=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003015671] Chr9:128947289 [GRCh38]
Chr9:131709568 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1603T>C (p.Leu535=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002903210] Chr9:128945701 [GRCh38]
Chr9:131707980 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.956A>G (p.Asn319Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003011777] Chr9:128946348 [GRCh38]
Chr9:131708627 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1103C>T (p.Ala368Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003076594] Chr9:128946201 [GRCh38]
Chr9:131708480 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.313C>T (p.Pro105Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003034199] Chr9:128946991 [GRCh38]
Chr9:131709270 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.477G>C (p.Leu159Phe) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003034395] Chr9:128946827 [GRCh38]
Chr9:131709106 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.191T>C (p.Leu64Pro) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002972246] Chr9:128947113 [GRCh38]
Chr9:131709392 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1348G>A (p.Gly450Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002842639] Chr9:128945956 [GRCh38]
Chr9:131708235 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.591_592dup (p.Leu198fs) duplication DK1-congenital disorder of glycosylation [RCV003014572] Chr9:128946711..128946712 [GRCh38]
Chr9:131708990..131708991 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.559C>T (p.Arg187Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002967447] Chr9:128946745 [GRCh38]
Chr9:131709024 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1606C>G (p.Leu536Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002842686] Chr9:128945698 [GRCh38]
Chr9:131707977 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.971C>T (p.Ser324Phe) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003097495] Chr9:128946333 [GRCh38]
Chr9:131708612 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.26C>T (p.Ala9Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002621963] Chr9:128947278 [GRCh38]
Chr9:131709557 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1024C>T (p.Leu342Phe) single nucleotide variant Cardiovascular phenotype [RCV004093918] Chr9:128946280 [GRCh38]
Chr9:131708559 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1393C>T (p.Arg465Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002975863] Chr9:128945911 [GRCh38]
Chr9:131708190 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1600A>G (p.Ile534Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002735412] Chr9:128945704 [GRCh38]
Chr9:131707983 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1195C>G (p.Arg399Gly) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003078175] Chr9:128946109 [GRCh38]
Chr9:131708388 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.330T>G (p.Phe110Leu) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002846565] Chr9:128946974 [GRCh38]
Chr9:131709253 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.941T>C (p.Val314Ala) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003019070] Chr9:128946363 [GRCh38]
Chr9:131708642 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1596C>G (p.Leu532=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003035277] Chr9:128945708 [GRCh38]
Chr9:131707987 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1571A>T (p.Asp524Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002620860] Chr9:128945733 [GRCh38]
Chr9:131708012 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.98G>T (p.Ser33Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002847999] Chr9:128947206 [GRCh38]
Chr9:131709485 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.864T>C (p.Leu288=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003020115] Chr9:128946440 [GRCh38]
Chr9:131708719 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1071A>G (p.Pro357=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003002508] Chr9:128946233 [GRCh38]
Chr9:131708512 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1267C>G (p.Pro423Ala) single nucleotide variant Cardiovascular phenotype [RCV004122707] Chr9:128946037 [GRCh38]
Chr9:131708316 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.738C>T (p.Val246=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003021004] Chr9:128946566 [GRCh38]
Chr9:131708845 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.540C>A (p.Ile180=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003077134] Chr9:128946764 [GRCh38]
Chr9:131709043 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.834C>A (p.Leu278=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002745676] Chr9:128946470 [GRCh38]
Chr9:131708749 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.56C>T (p.Ser19Leu) single nucleotide variant Cardiovascular phenotype [RCV003377904]|DK1-congenital disorder of glycosylation [RCV002623855] Chr9:128947248 [GRCh38]
Chr9:131709527 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1616A>G (p.Ter539Trp) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002644013] Chr9:128945688 [GRCh38]
Chr9:131707967 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1028T>C (p.Ile343Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002624102] Chr9:128946276 [GRCh38]
Chr9:131708555 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1302_1311del (p.Ala435fs) deletion DK1-congenital disorder of glycosylation [RCV002954447] Chr9:128945993..128946002 [GRCh38]
Chr9:131708272..131708281 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1344_1346dup (p.Val449_Gly450insVal) duplication DK1-congenital disorder of glycosylation [RCV002642948] Chr9:128945957..128945958 [GRCh38]
Chr9:131708236..131708237 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.261C>T (p.Val87=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002711423] Chr9:128947043 [GRCh38]
Chr9:131709322 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.400C>T (p.Arg134Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002575377] Chr9:128946904 [GRCh38]
Chr9:131709183 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.502_522del (p.Leu168_Phe174del) deletion DK1-congenital disorder of glycosylation [RCV002643082] Chr9:128946782..128946802 [GRCh38]
Chr9:131709061..131709081 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1563A>G (p.Thr521=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003023460] Chr9:128945741 [GRCh38]
Chr9:131708020 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1257_1258del (p.Ile419fs) deletion DK1-congenital disorder of glycosylation [RCV003007868] Chr9:128946046..128946047 [GRCh38]
Chr9:131708325..131708326 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.516G>A (p.Leu172=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002711768] Chr9:128946788 [GRCh38]
Chr9:131709067 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1407C>T (p.Thr469=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003005920] Chr9:128945897 [GRCh38]
Chr9:131708176 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.96G>A (p.Leu32=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002852504] Chr9:128947208 [GRCh38]
Chr9:131709487 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.118G>A (p.Asp40Asn) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002632359] Chr9:128947186 [GRCh38]
Chr9:131709465 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1089C>A (p.Ala363=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003048245] Chr9:128946215 [GRCh38]
Chr9:131708494 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1395C>G (p.Arg465=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003087520] Chr9:128945909 [GRCh38]
Chr9:131708188 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1193A>G (p.Glu398Gly) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003048581] Chr9:128946111 [GRCh38]
Chr9:131708390 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1140C>T (p.Arg380=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002805984] Chr9:128946164 [GRCh38]
Chr9:131708443 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1363T>A (p.Ser455Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003044037] Chr9:128945941 [GRCh38]
Chr9:131708220 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1332C>T (p.Val444=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003087839] Chr9:128945972 [GRCh38]
Chr9:131708251 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1170C>T (p.Ser390=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002628160]|DOLK-related disorder [RCV003946322] Chr9:128946134 [GRCh38]
Chr9:131708413 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.200G>A (p.Gly67Glu) single nucleotide variant Cardiovascular phenotype [RCV003162063]|DK1-congenital disorder of glycosylation [RCV002629480] Chr9:128947104 [GRCh38]
Chr9:131709383 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1045A>C (p.Ile349Leu) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003028570] Chr9:128946259 [GRCh38]
Chr9:131708538 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1536T>G (p.Thr512=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002671916] Chr9:128945768 [GRCh38]
Chr9:131708047 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.109A>C (p.Thr37Pro) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002647400] Chr9:128947195 [GRCh38]
Chr9:131709474 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.141G>A (p.Val47=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002961923] Chr9:128947163 [GRCh38]
Chr9:131709442 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.433G>T (p.Gly145Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003011259] Chr9:128946871 [GRCh38]
Chr9:131709150 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.664C>T (p.Pro222Ser) single nucleotide variant Cardiovascular phenotype [RCV004123047]|DK1-congenital disorder of glycosylation [RCV003777783] Chr9:128946640 [GRCh38]
Chr9:131708919 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.332G>A (p.Gly111Asp) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003029174] Chr9:128946972 [GRCh38]
Chr9:131709251 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1456T>A (p.Ser486Thr) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003089305] Chr9:128945848 [GRCh38]
Chr9:131708127 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1282del (p.Gln428fs) deletion DK1-congenital disorder of glycosylation [RCV002835238] Chr9:128946022 [GRCh38]
Chr9:131708301 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1039A>G (p.Thr347Ala) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002647422] Chr9:128946265 [GRCh38]
Chr9:131708544 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.889C>T (p.Arg297Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002647506] Chr9:128946415 [GRCh38]
Chr9:131708694 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1082T>C (p.Val361Ala) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002602690] Chr9:128946222 [GRCh38]
Chr9:131708501 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.781C>A (p.Leu261Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003049592] Chr9:128946523 [GRCh38]
Chr9:131708802 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1427_1428delinsTT (p.Thr476Ile) indel DK1-congenital disorder of glycosylation [RCV002814376] Chr9:128945876..128945877 [GRCh38]
Chr9:131708155..131708156 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1576C>T (p.Leu526Phe) single nucleotide variant Cardiovascular phenotype [RCV004617086]|DK1-congenital disorder of glycosylation [RCV002721882] Chr9:128945728 [GRCh38]
Chr9:131708007 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.965G>A (p.Arg322Gln) single nucleotide variant Cardiovascular phenotype [RCV004064461]|DK1-congenital disorder of glycosylation [RCV002586313] Chr9:128946339 [GRCh38]
Chr9:131708618 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.367C>T (p.Leu123Phe) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002583933] Chr9:128946937 [GRCh38]
Chr9:131709216 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.305C>G (p.Ala102Gly) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002609068] Chr9:128946999 [GRCh38]
Chr9:131709278 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.890G>A (p.Arg297His) single nucleotide variant Cardiovascular phenotype [RCV003377855]|DK1-congenital disorder of glycosylation [RCV003051343] Chr9:128946414 [GRCh38]
Chr9:131708693 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.702G>A (p.Met234Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002582892] Chr9:128946602 [GRCh38]
Chr9:131708881 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.800G>T (p.Ser267Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV002589526] Chr9:128946504 [GRCh38]
Chr9:131708783 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.27C>T (p.Ala9=) single nucleotide variant Cardiovascular phenotype [RCV003181797] Chr9:128947277 [GRCh38]
Chr9:131709556 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.657G>C (p.Gln219His) single nucleotide variant Cardiovascular phenotype [RCV003181796] Chr9:128946647 [GRCh38]
Chr9:131708926 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.454A>G (p.Ile152Val) single nucleotide variant Cardiovascular phenotype [RCV003181795] Chr9:128946850 [GRCh38]
Chr9:131709129 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.964C>G (p.Arg322Gly) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003224669] Chr9:128946340 [GRCh38]
Chr9:131708619 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.966G>C (p.Arg322=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003600456]|not specified [RCV003331628] Chr9:128946338 [GRCh38]
Chr9:131708617 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1038C>A (p.Ala346=) single nucleotide variant Cardiovascular phenotype [RCV003380362] Chr9:128946266 [GRCh38]
Chr9:131708545 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.781C>T (p.Leu261Phe) single nucleotide variant Cardiovascular phenotype [RCV003380363] Chr9:128946523 [GRCh38]
Chr9:131708802 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.888C>T (p.Thr296=) single nucleotide variant Cardiovascular phenotype [RCV003380364] Chr9:128946416 [GRCh38]
Chr9:131708695 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.750A>G (p.Ser250=) single nucleotide variant Cardiovascular phenotype [RCV003380365] Chr9:128946554 [GRCh38]
Chr9:131708833 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1164A>G (p.Leu388=) single nucleotide variant Cardiovascular phenotype [RCV003380367] Chr9:128946140 [GRCh38]
Chr9:131708419 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.156G>A (p.Gln52=) single nucleotide variant Cardiovascular phenotype [RCV003380366] Chr9:128947148 [GRCh38]
Chr9:131709427 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1116C>T (p.Phe372=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003600591] Chr9:128946188 [GRCh38]
Chr9:131708467 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.207C>G (p.Ala69=) single nucleotide variant Cardiovascular phenotype [RCV004373929]|DK1-congenital disorder of glycosylation [RCV003600233] Chr9:128947097 [GRCh38]
Chr9:131709376 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.597T>A (p.Gly199=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003601047] Chr9:128946707 [GRCh38]
Chr9:131708986 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1352A>G (p.Asp451Gly) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003600728] Chr9:128945952 [GRCh38]
Chr9:131708231 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1278C>T (p.Cys426=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003601331] Chr9:128946026 [GRCh38]
Chr9:131708305 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1224C>T (p.His408=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003602406] Chr9:128946080 [GRCh38]
Chr9:131708359 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.543G>T (p.Leu181=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003600943] Chr9:128946761 [GRCh38]
Chr9:131709040 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1065C>T (p.Asp355=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003832273] Chr9:128946239 [GRCh38]
Chr9:131708518 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.975C>G (p.Ser325=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003497085] Chr9:128946329 [GRCh38]
Chr9:131708608 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg) single nucleotide variant DK1-congenital disorder of glycosylation [RCV003854954] Chr9:128945962 [GRCh38]
Chr9:131708241 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.1482C>T (p.Asp494=) single nucleotide variant Cardiovascular phenotype [RCV004369642]|DK1-congenital disorder of glycosylation [RCV003871891] Chr9:128945822 [GRCh38]
Chr9:131708101 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1006G>C (p.Ala336Pro) single nucleotide variant Cardiovascular phenotype [RCV004519557] Chr9:128946298 [GRCh38]
Chr9:131708577 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1295T>A (p.Leu432Gln) single nucleotide variant Cardiovascular phenotype [RCV004519559] Chr9:128946009 [GRCh38]
Chr9:131708288 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1567A>T (p.Ile523Leu) single nucleotide variant Cardiovascular phenotype [RCV004519561] Chr9:128945737 [GRCh38]
Chr9:131708016 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.617A>G (p.Asn206Ser) single nucleotide variant Cardiovascular phenotype [RCV004519563] Chr9:128946687 [GRCh38]
Chr9:131708966 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.813C>G (p.Val271=) single nucleotide variant Cardiovascular phenotype [RCV004519564] Chr9:128946491 [GRCh38]
Chr9:131708770 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.857G>A (p.Trp286Ter) single nucleotide variant Cardiovascular phenotype [RCV004519565] Chr9:128946447 [GRCh38]
Chr9:131708726 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_014908.4(DOLK):c.1236C>T (p.Leu412=) single nucleotide variant Cardiovascular phenotype [RCV004519558] Chr9:128946068 [GRCh38]
Chr9:131708347 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1598T>G (p.Leu533Arg) single nucleotide variant Cardiovascular phenotype [RCV004519562] Chr9:128945706 [GRCh38]
Chr9:131707985 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.527A>G (p.Tyr176Cys) single nucleotide variant not specified [RCV004527057] Chr9:128946777 [GRCh38]
Chr9:131709056 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1322A>G (p.Tyr441Cys) single nucleotide variant Cardiovascular phenotype [RCV004519560] Chr9:128945982 [GRCh38]
Chr9:131708261 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.356T>A (p.Met119Lys) single nucleotide variant Cardiovascular phenotype [RCV004384055] Chr9:128946948 [GRCh38]
Chr9:131709227 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.162C>G (p.Phe54Leu) single nucleotide variant Cardiovascular phenotype [RCV004384053] Chr9:128947142 [GRCh38]
Chr9:131709421 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.293G>A (p.Arg98Gln) single nucleotide variant Cardiovascular phenotype [RCV004384054] Chr9:128947011 [GRCh38]
Chr9:131709290 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130216807)_(133557056_?)dup duplication Dystonic disorder [RCV004581825] Chr9:130216807..133557056 [GRCh37]
Chr9:9q33.3-34.12		 uncertain significance
NC_000009.11:g.(?_131346980)_(135942612_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV004581884] Chr9:131346980..135942612 [GRCh37]
Chr9:9q34.11-34.2		 uncertain significance
NC_000009.11:g.(?_131678355)_(140095163_?)dup duplication not provided [RCV004582063] Chr9:131678355..140095163 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NM_014908.4(DOLK):c.132G>A (p.Trp44Ter) single nucleotide variant Cardiovascular phenotype [RCV004624573] Chr9:128947172 [GRCh38]
Chr9:131709451 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_014908.4(DOLK):c.871C>T (p.Leu291Phe) single nucleotide variant Cardiovascular phenotype [RCV004624574] Chr9:128946433 [GRCh38]
Chr9:131708712 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.788C>T (p.Thr263Ile) single nucleotide variant Cardiovascular phenotype [RCV004624575] Chr9:128946516 [GRCh38]
Chr9:131708795 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.38G>C (p.Gly13Ala) single nucleotide variant Cardiovascular phenotype [RCV004624577] Chr9:128947266 [GRCh38]
Chr9:131709545 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.734_737del (p.Phe245fs) deletion Cardiovascular phenotype [RCV004624569] Chr9:128946567..128946570 [GRCh38]
Chr9:131708846..131708849 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.1137C>T (p.Phe379=) single nucleotide variant Cardiovascular phenotype [RCV004624571] Chr9:128946167 [GRCh38]
Chr9:131708446 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1597C>A (p.Leu533Met) single nucleotide variant Cardiovascular phenotype [RCV004624572] Chr9:128945707 [GRCh38]
Chr9:131707986 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1470C>G (p.Ile490Met) single nucleotide variant Cardiovascular phenotype [RCV004624578] Chr9:128945834 [GRCh38]
Chr9:131708113 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.198G>A (p.Gln66=) single nucleotide variant Cardiovascular phenotype [RCV004624579] Chr9:128947106 [GRCh38]
Chr9:131709385 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.1360G>T (p.Ala454Ser) single nucleotide variant Cardiovascular phenotype [RCV004624580] Chr9:128945944 [GRCh38]
Chr9:131708223 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.517A>G (p.Ile173Val) single nucleotide variant Cardiovascular phenotype [RCV004624582] Chr9:128946787 [GRCh38]
Chr9:131709066 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.388C>T (p.Leu130Phe) single nucleotide variant Cardiovascular phenotype [RCV004624583] Chr9:128946916 [GRCh38]
Chr9:131709195 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.913T>C (p.Ser305Pro) single nucleotide variant not provided [RCV004768096] Chr9:128946391 [GRCh38]
Chr9:131708670 [GRCh37]
Chr9:9q34.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:172
Count of miRNA genes:159
Interacting mature miRNAs:169
Transcripts:ENST00000372586
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
ECD07840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,593 - 131,709,263UniSTSGRCh37
Build 369130,748,414 - 130,749,084RGDNCBI36
Celera9102,360,454 - 102,361,124RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,312 - 101,316,982UniSTS
ECD08075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,707,855 - 131,708,519UniSTSGRCh37
Build 369130,747,676 - 130,748,340RGDNCBI36
Celera9102,359,716 - 102,360,380RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,315,574 - 101,316,238UniSTS
ECD10329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,709,266 - 131,709,870UniSTSGRCh37
Build 369130,749,087 - 130,749,691RGDNCBI36
Celera9102,361,127 - 102,361,731RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,985 - 101,317,589UniSTS
ECD11198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,063 - 131,710,642UniSTSGRCh37
Build 369130,749,884 - 130,750,463RGDNCBI36
Celera9102,361,924 - 102,362,503RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,317,782 - 101,318,361UniSTS
ECD23487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,711,384 - 131,711,571UniSTSGRCh37
Build 369130,751,205 - 130,751,392RGDNCBI36
Celera9102,363,246 - 102,363,433RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,319,104 - 101,319,291UniSTS
REN36741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,734 - 131,710,958UniSTSGRCh37
Build 369130,750,555 - 130,750,779RGDNCBI36
Celera9102,362,595 - 102,362,819RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,318,453 - 101,318,677UniSTS
REN36742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,497 - 131,710,743UniSTSGRCh37
Build 369130,750,318 - 130,750,564RGDNCBI36
Celera9102,362,358 - 102,362,604RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,318,216 - 101,318,462UniSTS
REN36743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,287 - 131,710,517UniSTSGRCh37
Build 369130,750,108 - 130,750,338RGDNCBI36
Celera9102,362,148 - 102,362,378RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,318,006 - 101,318,236UniSTS
REN36744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,063 - 131,710,292UniSTSGRCh37
Build 369130,749,884 - 130,750,113RGDNCBI36
Celera9102,361,924 - 102,362,153RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,317,782 - 101,318,011UniSTS
REN36745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,709,809 - 131,710,039UniSTSGRCh37
Build 369130,749,630 - 130,749,860RGDNCBI36
Celera9102,361,670 - 102,361,900RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,317,528 - 101,317,758UniSTS
REN36746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,709,579 - 131,709,832UniSTSGRCh37
Build 369130,749,400 - 130,749,653RGDNCBI36
Celera9102,361,440 - 102,361,693RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,317,298 - 101,317,551UniSTS
REN36747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,709,356 - 131,709,601UniSTSGRCh37
Build 369130,749,177 - 130,749,422RGDNCBI36
Celera9102,361,217 - 102,361,462RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,317,075 - 101,317,320UniSTS
REN36748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,709,150 - 131,709,376UniSTSGRCh37
Build 369130,748,971 - 130,749,197RGDNCBI36
Celera9102,361,011 - 102,361,237RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,869 - 101,317,095UniSTS
REN36749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,927 - 131,709,174UniSTSGRCh37
Build 369130,748,748 - 130,748,995RGDNCBI36
Celera9102,360,788 - 102,361,035RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,646 - 101,316,893UniSTS
REN36750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,708 - 131,708,949UniSTSGRCh37
Build 369130,748,529 - 130,748,770RGDNCBI36
Celera9102,360,569 - 102,360,810RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,427 - 101,316,668UniSTS
REN36751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,455 - 131,708,718UniSTSGRCh37
Build 369130,748,276 - 130,748,539RGDNCBI36
Celera9102,360,316 - 102,360,579RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,174 - 101,316,437UniSTS
REN36752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,212 - 131,708,477UniSTSGRCh37
Build 369130,748,033 - 130,748,298RGDNCBI36
Celera9102,360,073 - 102,360,338RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,315,931 - 101,316,196UniSTS
REN36753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,707,997 - 131,708,234UniSTSGRCh37
Build 369130,747,818 - 130,748,055RGDNCBI36
Celera9102,359,858 - 102,360,095RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,315,716 - 101,315,953UniSTS
REN36754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,707,790 - 131,708,014UniSTSGRCh37
Build 369130,747,611 - 130,747,835RGDNCBI36
Celera9102,359,651 - 102,359,875RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,315,509 - 101,315,733UniSTS
TMEM15_9275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,707,790 - 131,708,692UniSTSGRCh37
Build 369130,747,611 - 130,748,513RGDNCBI36
Celera9102,359,651 - 102,360,553RGD
HuRef9101,315,509 - 101,316,411UniSTS
stSG628087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,707,877 - 131,708,943UniSTSGRCh37
Build 369130,747,698 - 130,748,764RGDNCBI36
Celera9102,359,738 - 102,360,804RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,315,596 - 101,316,662UniSTS
stSG628088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,924 - 131,710,311UniSTSGRCh37
Build 369130,748,745 - 130,750,132RGDNCBI36
Celera9102,360,785 - 102,362,172RGD
HuRef9101,316,643 - 101,318,030UniSTS
stSG628089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,292 - 131,711,563UniSTSGRCh37
Build 369130,750,113 - 130,751,384RGDNCBI36
Celera9102,362,153 - 102,363,425RGD
HuRef9101,318,011 - 101,319,283UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 5 624 1949 465 2269 7303 6469 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000372586   ⟹   ENSP00000361667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,945,530 - 128,947,603 (-)Ensembl
RefSeq Acc Id: NM_014908   ⟹   NP_055723
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,945,530 - 128,947,603 (-)NCBI
GRCh379131,707,809 - 131,710,012 (-)RGD
Build 369130,747,630 - 130,749,833 (-)NCBI Archive
Celera9102,359,670 - 102,361,873 (-)RGD
HuRef9101,315,528 - 101,317,731 (-)RGD
CHM1_19131,858,858 - 131,861,061 (-)NCBI
T2T-CHM13v2.09141,148,939 - 141,151,012 (-)NCBI
Sequence:
RefSeq Acc Id: NP_055723   ⟸   NM_014908
- UniProtKB: Q5SRE6 (UniProtKB/Swiss-Prot),   Q9UPQ8 (UniProtKB/Swiss-Prot),   A0A0S2Z597 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000361667   ⟸   ENST00000372586

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UPQ8-F1-model_v2 AlphaFold Q9UPQ8 1-538 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23406 AgrOrtholog
COSMIC DOLK COSMIC
Ensembl Genes ENSG00000175283 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372586 ENTREZGENE
  ENST00000372586.4 UniProtKB/Swiss-Prot
GTEx ENSG00000175283 GTEx
HGNC ID HGNC:23406 ENTREZGENE
Human Proteome Map DOLK Human Proteome Map
InterPro Polypren_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22845 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 22845 ENTREZGENE
OMIM 610746 OMIM
PANTHER PTHR13205 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13205:SF15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162384054 PharmGKB
UniProt A0A0S2Z597 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5Y1_HUMAN UniProtKB/TrEMBL
  DOLK_HUMAN UniProtKB/Swiss-Prot
  Q5SRE6 ENTREZGENE
  Q9UPQ8 ENTREZGENE
UniProt Secondary Q5SRE6 UniProtKB/Swiss-Prot