MCOLN1 (mucolipin TRP cation channel 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: MCOLN1 (mucolipin TRP cation channel 1) Homo sapiens
Analyze
Symbol: MCOLN1
Name: mucolipin TRP cation channel 1
RGD ID: 1319026
HGNC Page HGNC:13356
Description: Enables identical protein binding activity; iron ion transmembrane transporter activity; and ligand-gated calcium channel activity. Involved in several processes, including metal ion transport; positive regulation of lysosome organization; and protein homotetramerization. Located in several cellular components, including Golgi apparatus; late endosome; and lysosome. Part of receptor complex. Is active in lysosomal membrane. Implicated in Lisch epithelial corneal dystrophy; glycoproteinosis; and mucolipidosis type IV.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LECD; MG-2; ML1; ML4; MLIV; MST080; MSTP080; mucolipidin; mucolipidosis type IV protein; mucolipin 1; mucolipin-1; transient receptor potential cation channel mucolipin subfamily member 1; transient receptor potential channel mucolipin 1; transient receptor potential mucolipin 1; TRP-ML1; TRPM-L1; TRPML1
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
GRCh38197,522,624 - 7,534,009 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl197,522,624 - 7,534,009 (+)Ensemblhg38GRCh38
GRCh37197,587,510 - 7,598,895 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,493,512 - 7,504,864 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34197,493,511 - 7,504,864NCBI
Celera197,460,019 - 7,471,418 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef197,258,672 - 7,270,051 (+)NCBIHuRef
CHM1_1197,587,414 - 7,598,813 (+)NCBICHM1_1
T2T-CHM13v2.0197,523,360 - 7,534,743 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha,alpha-trehalose  (ISO)
antimony(0)  (EXP,ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium dichloride  (EXP,ISO)
calcium atom  (EXP)
calcium(0)  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
deguelin  (EXP)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
finasteride  (ISO)
fipronil  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
leflunomide  (ISO)
Licochalcone B  (EXP)
methyl methanesulfonate  (EXP)
nefazodone  (ISO)
nicotinic acid-adenine dinucleotide phosphate  (EXP)
nimesulide  (ISO)
okadaic acid  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenethyl isothiocyanate  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP,ISO)
rotenone  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP,ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal abdomen morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal nasal morphology  (IAGP)
Abnormality of mucopolysaccharide metabolism  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the nervous system  (IAGP)
Absent speech  (IAGP)
Achlorhydria  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Ataxia  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Band-shaped corneal dystrophy  (IAGP)
Biparietal narrowing  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral dysmyelination  (IAGP)
Childhood onset  (IAGP)
Coarse facial features  (IAGP)
Corneal opacity  (IAGP)
Decreased light- and dark-adapted electroretinogram amplitude  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Developmental stagnation  (IAGP)
Dysplastic corpus callosum  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Everted lower lip vermilion  (IAGP)
Gait disturbance  (IAGP)
Ganglioside accumulation  (IAGP)
Generalized hypotonia  (IAGP)
Genu recurvatum  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hypergastrinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Nystagmus  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Palmoplantar keratoderma  (IAGP)
Periventricular leukomalacia  (IAGP)
Photophobia  (IAGP)
Progressive neurologic deterioration  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinopathy  (IAGP)
Spastic tetraplegia  (IAGP)
Strabismus  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Identification of the gene causing mucolipidosis type IV. Bargal R, etal., Nat Genet. 2000 Sep;26(1):118-23.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family. Wu LJ, etal., Pharmacol Rev. 2010 Sep;62(3):381-404. doi: 10.1124/pr.110.002725.
Additional References at PubMed
PMID:2874839   PMID:8125298   PMID:10441585   PMID:11013137   PMID:11030752   PMID:11317355   PMID:11318610   PMID:11326278   PMID:11845410   PMID:12125810   PMID:12182165   PMID:12459486  
PMID:12477932   PMID:14702039   PMID:14749347   PMID:15070744   PMID:15178326   PMID:15336987   PMID:15345747   PMID:15489334   PMID:15523648   PMID:16133264   PMID:16169070   PMID:16257972  
PMID:16287144   PMID:16361256   PMID:16382100   PMID:16497227   PMID:16517607   PMID:16606612   PMID:16645217   PMID:16978393   PMID:17239335   PMID:17306511   PMID:17897319   PMID:17924347  
PMID:17988215   PMID:18029348   PMID:18264947   PMID:18504305   PMID:18794901   PMID:19006653   PMID:19638346   PMID:19763610   PMID:19864416   PMID:19885840   PMID:20301393   PMID:20736310  
PMID:20864526   PMID:21224396   PMID:21256127   PMID:21290297   PMID:21540176   PMID:21613607   PMID:21873635   PMID:21889421   PMID:22262857   PMID:22415822   PMID:22733759   PMID:23047439  
PMID:23368743   PMID:23382219   PMID:23418601   PMID:23685283   PMID:24192042   PMID:24960374   PMID:25130899   PMID:25720963   PMID:25733853   PMID:26009188   PMID:26115100   PMID:26186194  
PMID:26195823   PMID:27357649   PMID:27577094   PMID:27623384   PMID:27787197   PMID:28087698   PMID:28298427   PMID:28360104   PMID:28514442   PMID:29019983   PMID:29030399   PMID:29449188  
PMID:29460684   PMID:29577631   PMID:29884771   PMID:30305615   PMID:30787043   PMID:30889511   PMID:31122790   PMID:31362332   PMID:31461647   PMID:31526156   PMID:31536960   PMID:31822666  
PMID:32220057   PMID:32296183   PMID:32423001   PMID:32703809   PMID:32753672   PMID:32918875   PMID:33226137   PMID:33822942   PMID:33859333   PMID:33961781   PMID:34706264   PMID:34878954  
PMID:35116093   PMID:35205297   PMID:35271311   PMID:35337019   PMID:35644286   PMID:35662396   PMID:35879577   PMID:35879578   PMID:37394797   PMID:37471054   PMID:37508500   PMID:37737664  
PMID:37972748   PMID:38141765   PMID:38142951   PMID:38247807   PMID:38474091   PMID:38899729   PMID:38924427   PMID:39080379   PMID:39120584   PMID:39201515   PMID:40437099  


Genomics

Comparative Map Data
MCOLN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38197,522,624 - 7,534,009 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl197,522,624 - 7,534,009 (+)Ensemblhg38GRCh38
GRCh37197,587,510 - 7,598,895 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,493,512 - 7,504,864 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34197,493,511 - 7,504,864NCBI
Celera197,460,019 - 7,471,418 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef197,258,672 - 7,270,051 (+)NCBIHuRef
CHM1_1197,587,414 - 7,598,813 (+)NCBICHM1_1
T2T-CHM13v2.0197,523,360 - 7,534,743 (+)NCBIT2T-CHM13v2.0
Mcoln1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3983,550,458 - 3,565,232 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl83,550,457 - 3,565,232 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm3883,500,519 - 3,515,232 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl83,500,457 - 3,515,232 (+)Ensemblmm10GRCm38
MGSCv3783,500,519 - 3,515,232 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv3683,500,519 - 3,515,232 (+)NCBIMGSCv36mm8
Celera83,726,493 - 3,741,206 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map81.92NCBI
Mcoln1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8126,357,851 - 6,372,151 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl126,357,807 - 6,372,151 (+)EnsemblGRCr8
mRatBN7.2121,560,341 - 1,574,252 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl121,560,359 - 1,574,252 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx122,224,512 - 2,238,389 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0122,848,082 - 2,861,959 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0121,620,097 - 1,633,967 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0122,054,629 - 2,068,682 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl122,054,680 - 2,068,682 (+)Ensemblrn6Rnor6.0
Rnor_5.0124,216,866 - 4,230,870 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4122,640,030 - 2,653,923 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera123,416,808 - 3,430,691 (+)NCBICelera
RGSC_v3.1122,640,054 - 2,653,874 (-)NCBI
Cytogenetic Map12p12NCBI
Mcoln1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555631,703,416 - 1,745,996 (-)Ensembl
ChiLan1.0NW_0049555631,703,408 - 1,712,908 (-)NCBIChiLan1.0ChiLan1.0
MCOLN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22012,193,834 - 12,205,855 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11911,312,270 - 11,323,883 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0196,813,498 - 6,825,153 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1197,671,704 - 7,683,093 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl197,671,704 - 7,683,093 (+)EnsemblpanPan2panpan1.1
MCOLN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12052,318,411 - 52,327,389 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2052,318,408 - 52,348,963 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2052,122,621 - 52,131,450 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02052,847,692 - 52,856,522 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2052,847,619 - 52,856,453 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12052,051,554 - 52,060,343 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02052,495,158 - 52,503,986 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02052,726,054 - 52,734,883 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Mcoln1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118213,225,990 - 213,234,438 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365884,600,344 - 4,608,787 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365884,600,344 - 4,608,793 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCOLN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl271,602,770 - 71,613,312 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1271,602,888 - 71,613,331 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2272,056,664 - 72,151,756 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MCOLN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.167,019,132 - 7,030,675 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl67,019,277 - 7,030,474 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666081837,403 - 849,809 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mcoln1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624828634,214 - 643,633 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624828634,318 - 643,406 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in MCOLN1
858 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020533.3(MCOLN1):c.406-2A>G single nucleotide variant Mucolipidosis [RCV000825567]|Mucolipidosis type IV [RCV000005438]|Mucolipidosis type IV [RCV005003336]|not provided [RCV000058927] Chr19:7526759 [GRCh38]
Chr19:7591645 [GRCh37]
Chr19:19p13.2		 pathogenic|not provided
NM_020533.2(MCOLN1):c.-1015_789del deletion Mucolipidosis type IV [RCV000005439] Chr19:7521736..7528169 [GRCh38]
Chr19:7586622..7593055 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) single nucleotide variant Inborn genetic diseases [RCV002512808]|Mucolipidosis type IV [RCV000005440]|not provided [RCV000479374] Chr19:7528683 [GRCh38]
Chr19:7593569 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
MCOLN1, 3-BP DEL, 1346CTT deletion Mucolipidosis type IV [RCV000005441] Chr19:19p13.3-p13.2 pathogenic
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) single nucleotide variant MCOLN1-related disorder [RCV003894792]|Mucolipidosis type IV [RCV000005442]|Mucolipidosis type IV [RCV005016242]|not provided [RCV000727664] Chr19:7528920 [GRCh38]
Chr19:7593806 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) single nucleotide variant Mucolipidosis type IV [RCV000005443]|not provided [RCV000498354] Chr19:7526505 [GRCh38]
Chr19:7591391 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) single nucleotide variant Mucolipidosis type IV [RCV000005444] Chr19:7529173 [GRCh38]
Chr19:7594059 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3:c.236_237ins[NC_012920.1:g.12435_12528] insertion Mucolipidosis type IV [RCV000005445] Chr19:19p13.3-p13.2 pathogenic
MCOLN1, 1704A-T single nucleotide variant Mucolipidosis type IV [RCV000005446] Chr19:19p13.3-p13.2 pathogenic
NM_020533.3(MCOLN1):c.405+66C>T single nucleotide variant not provided [RCV001545201] Chr19:7526672 [GRCh38]
Chr19:7591558 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1013G>A (p.Arg338Gln) single nucleotide variant Inborn genetic diseases [RCV002377035]|Mucolipidosis type IV [RCV000550574] Chr19:7528849 [GRCh38]
Chr19:7593735 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3 copy number gain See cases [RCV000054108] Chr19:7194917..7827432 [GRCh38]
Chr19:7194928..7892318 [GRCh37]
Chr19:7145928..7798318 [NCBI36]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.680+1G>A single nucleotide variant Mucolipidosis type IV [RCV001004612] Chr19:7527629 [GRCh38]
Chr19:7592515 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.1196T>A (p.Val399Glu) single nucleotide variant Mucolipidosis type IV [RCV001297325] Chr19:7529162 [GRCh38]
Chr19:7594048 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu) single nucleotide variant Inborn genetic diseases [RCV001266563]|Mucolipidosis type IV [RCV000194491]|Mucolipidosis type IV [RCV005025309] Chr19:7529689 [GRCh38]
Chr19:7594575 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.317T>C (p.Leu106Pro) single nucleotide variant Mucolipidosis type IV [RCV000194523] Chr19:7526518 [GRCh38]
Chr19:7591404 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) deletion Inborn genetic diseases [RCV004020300]|Mucolipidosis type IV [RCV000194725]|Mucolipidosis type IV [RCV005003546] Chr19:7528639 [GRCh38]
Chr19:7593525 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020533.3(MCOLN1):c.235C>T (p.Gln79Ter) single nucleotide variant Mucolipidosis type IV [RCV000194827] Chr19:7525164 [GRCh38]
Chr19:7590050 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.497G>T (p.Cys166Phe) single nucleotide variant Mucolipidosis type IV [RCV001828013]|not specified [RCV001193948] Chr19:7526852 [GRCh38]
Chr19:7591738 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) single nucleotide variant Lisch epithelial corneal dystrophy [RCV003985298]|Mucolipidosis type IV [RCV000195067]|Mucolipidosis type IV [RCV005016548] Chr19:7526869 [GRCh38]
Chr19:7591755 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
AF287270:g.511_6943del deletion Mucolipidosis type IV [RCV000192299] Chr19:19p13.2 pathogenic
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) single nucleotide variant Mucolipidosis type IV [RCV000192300]|Mucolipidosis type IV [RCV005016546] Chr19:7527877 [GRCh38]
Chr19:7592763 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser) single nucleotide variant MCOLN1-related disorder [RCV004757154]|Mucolipidosis type IV [RCV000192302] Chr19:7530332 [GRCh38]
Chr19:7595218 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=) single nucleotide variant Mucolipidosis type IV [RCV000192303]|not specified [RCV002282024] Chr19:7533651 [GRCh38]
Chr19:7598537 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
NM_020533.3(MCOLN1):c.1615del (p.Ala539fs) deletion Mucolipidosis type IV [RCV000192304] Chr19:7533561 [GRCh38]
Chr19:7598447 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.163_197delinsTCA (p.Lys55fs) indel Mucolipidosis type IV [RCV000192305] Chr19:7525092..7525126 [GRCh38]
Chr19:7589978..7590012 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.473_474del (p.Thr158fs) deletion Mucolipidosis type IV [RCV000192306] Chr19:7526828..7526829 [GRCh38]
Chr19:7591714..7591715 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs) duplication Mucolipidosis type IV [RCV000192307]|Mucolipidosis type IV [RCV005025308] Chr19:7529175..7529176 [GRCh38]
Chr19:7594061..7594062 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.1340T>C (p.Leu447Pro) single nucleotide variant Mucolipidosis type IV [RCV000192526] Chr19:7529693 [GRCh38]
Chr19:7594579 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.236_237ins[NC_012920.1:m.12435_12527] (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer) insertion Mucolipidosis type IV [RCV000192594] Chr19:7525165..7525166 [GRCh38]
Chr19:7590051..7590052 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.2(MCOLN1):c.1614delG (p.Ala539Profs) deletion Ganglioside sialidase deficiency [RCV000192753] Chr19:7533561 [GRCh38]
Chr19:7598447 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs) duplication Mucolipidosis type IV [RCV000193040]|Mucolipidosis type IV [RCV005016547] Chr19:7530370..7530371 [GRCh38]
Chr19:7595256..7595257 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.1395C>G (p.Phe465Leu) single nucleotide variant Mucolipidosis type IV [RCV000193511] Chr19:7530321 [GRCh38]
Chr19:7595207 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.302_303del (p.Phe101fs) deletion Mucolipidosis type IV [RCV000193619] Chr19:7526503..7526504 [GRCh38]
Chr19:7591389..7591390 [GRCh37]
Chr19:19p13.2		 pathogenic
AF287270.1:g.12426A>T single nucleotide variant Ganglioside sialidase deficiency [RCV000193785] Chr19:19p13.2 pathogenic
NM_020533.3(MCOLN1):c.1388G>A (p.Cys463Tyr) single nucleotide variant Mucolipidosis type IV [RCV000194185] Chr19:7530314 [GRCh38]
Chr19:7595200 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) microsatellite Mucolipidosis type IV [RCV000192301]|not provided [RCV003886385] Chr19:7529184..7529186 [GRCh38]
Chr19:7594070..7594072 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.571+2T>C single nucleotide variant Mucolipidosis type IV [RCV000669577]|Mucolipidosis type IV [RCV005027804] Chr19:7526928 [GRCh38]
Chr19:7591814 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) single nucleotide variant Mucolipidosis type IV [RCV000310578]|Mucolipidosis type IV [RCV005396873]|not provided [RCV000675737]|not specified [RCV000327699] Chr19:7528162 [GRCh38]
Chr19:7593048 [GRCh37]
Chr19:19p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.840_845del (p.His280_Ile281del) deletion Mucolipidosis type IV [RCV000669156] Chr19:7528217..7528222 [GRCh38]
Chr19:7593103..7593108 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) single nucleotide variant Mucolipidosis type IV [RCV000325541]|not provided [RCV000675739]|not specified [RCV000251035] Chr19:7528685 [GRCh38]
Chr19:7593571 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.984C>T (p.Asn328=) single nucleotide variant Mucolipidosis type IV [RCV000380192]|not provided [RCV000675740]|not specified [RCV000254195] Chr19:7528703 [GRCh38]
Chr19:7593589 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.984+13C>T single nucleotide variant Mucolipidosis type IV [RCV000267035] Chr19:7528716 [GRCh38]
Chr19:7593602 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1359+13C>T single nucleotide variant Mucolipidosis type IV [RCV000278476] Chr19:7529725 [GRCh38]
Chr19:7594611 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.405+13G>A single nucleotide variant Mucolipidosis type IV [RCV000299026]|not provided [RCV000675736] Chr19:7526619 [GRCh38]
Chr19:7591505 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.949G>A (p.Ala317Thr) single nucleotide variant Inborn genetic diseases [RCV003168495]|Mucolipidosis type IV [RCV000270427] Chr19:7528668 [GRCh38]
Chr19:7593554 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1707-14C>T single nucleotide variant Mucolipidosis type IV [RCV000392939] Chr19:7533745 [GRCh38]
Chr19:7598631 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.777+13G>A single nucleotide variant Mucolipidosis type IV [RCV000274077] Chr19:7527973 [GRCh38]
Chr19:7592859 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=) single nucleotide variant Inborn genetic diseases [RCV002402050]|Mucolipidosis type IV [RCV000312085]|not provided [RCV000596323] Chr19:7533771 [GRCh38]
Chr19:7598657 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=) single nucleotide variant Inborn genetic diseases [RCV002411168]|Mucolipidosis type IV [RCV001089388]|not provided [RCV000309039] Chr19:7528163 [GRCh38]
Chr19:7593049 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.815C>G (p.Pro272Arg) single nucleotide variant Inborn genetic diseases [RCV005372291]|Mucolipidosis type IV [RCV000365223] Chr19:7528195 [GRCh38]
Chr19:7593081 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.771C>A (p.Ser257Arg) single nucleotide variant Mucolipidosis type IV [RCV000368740]|not provided [RCV001706541] Chr19:7527954 [GRCh38]
Chr19:7592840 [GRCh37]
Chr19:19p13.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) single nucleotide variant Mucolipidosis type IV [RCV000281872] Chr19:7528874 [GRCh38]
Chr19:7593760 [GRCh37]
Chr19:19p13.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1359+11C>A single nucleotide variant Mucolipidosis type IV [RCV000373090] Chr19:7529723 [GRCh38]
Chr19:7594609 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys) single nucleotide variant Mucolipidosis type IV [RCV000400864] Chr19:7522766 [GRCh38]
Chr19:7587652 [GRCh37]
Chr19:19p13.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1021G>A (p.Val341Ile) single nucleotide variant Inborn genetic diseases [RCV005372292]|Mucolipidosis type IV [RCV000376444] Chr19:7528857 [GRCh38]
Chr19:7593743 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1053C>T (p.Val351=) single nucleotide variant Mucolipidosis type IV [RCV001087170]|not provided [RCV000315601] Chr19:7528889 [GRCh38]
Chr19:7593775 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.490G>A (p.Ala164Thr) single nucleotide variant Inborn genetic diseases [RCV002521260]|Mucolipidosis type IV [RCV000353854] Chr19:7526845 [GRCh38]
Chr19:7591731 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.882C>T (p.Asp294=) single nucleotide variant not provided [RCV000392271] Chr19:7528601 [GRCh38]
Chr19:7593487 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=) single nucleotide variant Mucolipidosis type IV [RCV000291014]|not provided [RCV003409526] Chr19:7524989 [GRCh38]
Chr19:7589875 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.615dup (p.Ser206fs) duplication Mucolipidosis type IV [RCV001855065]|not provided [RCV000368147] Chr19:7527557..7527558 [GRCh38]
Chr19:7592443..7592444 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1237-12G>A single nucleotide variant Mucolipidosis type IV [RCV000336936] Chr19:7529578 [GRCh38]
Chr19:7594464 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=) single nucleotide variant Mucolipidosis type IV [RCV001088846]|not provided [RCV000261363] Chr19:7529145 [GRCh38]
Chr19:7594031 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.560T>C (p.Met187Thr) single nucleotide variant not provided [RCV000295060] Chr19:7526915 [GRCh38]
Chr19:7591801 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.*22C>T single nucleotide variant Mucolipidosis type IV [RCV000348278] Chr19:7533817 [GRCh38]
Chr19:7598703 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.177G>A (p.Lys59=) single nucleotide variant Mucolipidosis type IV [RCV000348320] Chr19:7525106 [GRCh38]
Chr19:7589992 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.558G>A (p.Pro186=) single nucleotide variant Mucolipidosis type IV [RCV000403202] Chr19:7526913 [GRCh38]
Chr19:7591799 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) single nucleotide variant Mucolipidosis type IV [RCV000985193]|not provided [RCV000489236] Chr19:7529689 [GRCh38]
Chr19:7594575 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) single nucleotide variant Hereditary spastic paraplegia 39 [RCV000471944]|Hereditary spastic paraplegia [RCV001848048]|Mucolipidosis type IV [RCV000382066]|Spastic Paraplegia, Recessive [RCV000305384]|not specified [RCV000314678] Chr19:7535961 [GRCh38]
Chr19:7600847 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_006702.5(PNPLA6):c.-96A>C single nucleotide variant Hereditary spastic paraplegia 39 [RCV001128693]|Mucolipidosis type IV [RCV000325819]|Spastic Paraplegia, Recessive [RCV000309009]|not provided [RCV001718695] Chr19:7534849 [GRCh38]
Chr19:7599735 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_006702.5(PNPLA6):c.-261T>C single nucleotide variant Hereditary spastic paraplegia 39 [RCV000365355]|Mucolipidosis type IV [RCV000313101]|not provided [RCV002051847] Chr19:7534174 [GRCh38]
Chr19:7599060 [GRCh37]
Chr19:19p13.2		 benign
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) single nucleotide variant Ataxia-hypogonadism-choroidal dystrophy syndrome [RCV002500797]|Hereditary spastic paraplegia 39 [RCV000228464]|Hereditary spastic paraplegia [RCV001847968]|Mucolipidosis type IV [RCV000266445]|Spastic Paraplegia, Recessive [RCV000360128]|not provided [RCV001711637]|not specified [RCV001658065] Chr19:7535969 [GRCh38]
Chr19:7600855 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.1006C>T (p.Arg336Trp) single nucleotide variant Mucolipidosis type IV [RCV000321826] Chr19:7528842 [GRCh38]
Chr19:7593728 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) single nucleotide variant Hereditary spastic paraplegia 39 [RCV000464986]|Hereditary spastic paraplegia [RCV001848671]|Mucolipidosis type IV [RCV000324046]|Spastic Paraplegia, Recessive [RCV000264716]|not provided [RCV004703812]|not specified [RCV000601995] Chr19:7535971 [GRCh38]
Chr19:7600857 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.-88G>T single nucleotide variant Mucolipidosis type IV [RCV000287422] Chr19:7522663 [GRCh38]
Chr19:7587549 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_006702.5(PNPLA6):c.-214C>T single nucleotide variant Hereditary spastic paraplegia 39 [RCV001128690]|Mucolipidosis type IV [RCV000273064]|not provided [RCV000832326] Chr19:7534221 [GRCh38]
Chr19:7599107 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.1360-13G>A single nucleotide variant Mucolipidosis type IV [RCV000352274]|Spastic Paraplegia, Recessive [RCV000274349]|not provided [RCV000675744] Chr19:7530273 [GRCh38]
Chr19:7595159 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.405+6G>C single nucleotide variant Mucolipidosis type IV [RCV000392685] Chr19:7526612 [GRCh38]
Chr19:7591498 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.610C>T (p.Pro204Ser) single nucleotide variant Mucolipidosis type IV [RCV000314152]|See cases [RCV002252097] Chr19:7527558 [GRCh38]
Chr19:7592444 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.-87A>T single nucleotide variant Mucolipidosis type IV [RCV000344689] Chr19:7522664 [GRCh38]
Chr19:7587550 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1360-16G>A single nucleotide variant Mucolipidosis type IV [RCV003505124]|not specified [RCV005240285] Chr19:7530270 [GRCh38]
Chr19:7595156 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.1017_1020del (p.Arg340fs) deletion not provided [RCV000598729] Chr19:7528851..7528854 [GRCh38]
Chr19:7593737..7593740 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1279C>T (p.Arg427Cys) single nucleotide variant Inborn genetic diseases [RCV002384017]|Mucolipidosis type IV [RCV001829526]|not provided [RCV000520473] Chr19:7529632 [GRCh38]
Chr19:7594518 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.232G>T (p.Val78Leu) single nucleotide variant Inborn genetic diseases [RCV004985002]|not provided [RCV000592611] Chr19:7525161 [GRCh38]
Chr19:7590047 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.777+99G>A single nucleotide variant Mucolipidosis type IV [RCV001273278]|not provided [RCV000588312] Chr19:7528059 [GRCh38]
Chr19:7592945 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.1135-1G>A single nucleotide variant Mucolipidosis type IV [RCV000409544] Chr19:7529100 [GRCh38]
Chr19:7593986 [GRCh37]
Chr19:19p13.2		 likely pathogenic
GRCh37/hg19 19p13.2(chr19:7528817-7589886)x3 copy number gain not provided [RCV000752549] Chr19:7528817..7589886 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.681-2A>G single nucleotide variant Mucolipidosis type IV [RCV000409750] Chr19:7527862 [GRCh38]
Chr19:7592748 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.365G>A (p.Arg122Gln) single nucleotide variant Inborn genetic diseases [RCV002458580]|Mucolipidosis type IV [RCV002540313]|not provided [RCV001760720] Chr19:7526566 [GRCh38]
Chr19:7591452 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.984+1G>A single nucleotide variant Mucolipidosis type IV [RCV000411895]|Mucolipidosis type IV [RCV005027463] Chr19:7528704 [GRCh38]
Chr19:7593590 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.777+1G>C single nucleotide variant Growth delay [RCV000415069]|Mucolipidosis type IV [RCV003766164] Chr19:7527961 [GRCh38]
Chr19:7592847 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.855_856insA (p.His286fs) insertion Mucolipidosis type IV [RCV000410830] Chr19:7528235..7528236 [GRCh38]
Chr19:7593121..7593122 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.31+1G>A single nucleotide variant Mucolipidosis type IV [RCV000410923] Chr19:7522782 [GRCh38]
Chr19:7587668 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs) duplication Mucolipidosis type IV [RCV000410945] Chr19:7524978..7524979 [GRCh38]
Chr19:7589864..7589865 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter) single nucleotide variant Growth delay [RCV000415330] Chr19:7526579 [GRCh38]
Chr19:7591465 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs) duplication Inborn genetic diseases [RCV000622495]|Mucolipidosis type IV [RCV000411871]|not provided [RCV000598909] Chr19:7528881..7528882 [GRCh38]
Chr19:7593767..7593768 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.1255C>A (p.Arg419=) single nucleotide variant not provided [RCV000731557] Chr19:7529608 [GRCh38]
Chr19:7594494 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1135-2A>G single nucleotide variant Mucolipidosis type IV [RCV000412239] Chr19:7529099 [GRCh38]
Chr19:7593985 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1135-1G>C single nucleotide variant Mucolipidosis type IV [RCV000412404] Chr19:7529100 [GRCh38]
Chr19:7593986 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.1447C>T (p.Gln483Ter) single nucleotide variant Mucolipidosis type IV [RCV000412421] Chr19:7530373 [GRCh38]
Chr19:7595259 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.405+1G>A single nucleotide variant MCOLN1-related disorder [RCV004757235]|Mucolipidosis type IV [RCV001273277]|not provided [RCV000485641] Chr19:7526607 [GRCh38]
Chr19:7591493 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NC_000019.10:g.(?_7522731)_(7528277_?)del deletion Mucolipidosis type IV [RCV000633993] Chr19:7522731..7528277 [GRCh38]
Chr19:7587617..7593163 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) single nucleotide variant MCOLN1-related disorder [RCV003905347]|Mucolipidosis type IV [RCV000526709] Chr19:7528913 [GRCh38]
Chr19:7593799 [GRCh37]
Chr19:19p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=) single nucleotide variant Mucolipidosis type IV [RCV001080744]|not provided [RCV000675742] Chr19:7529166 [GRCh38]
Chr19:7594052 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.1476del (p.Phe493fs) deletion Mucolipidosis type IV [RCV000672045] Chr19:7530402 [GRCh38]
Chr19:7595288 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.877+26A>G single nucleotide variant Mucolipidosis type IV [RCV001527280]|not provided [RCV000675738] Chr19:7528283 [GRCh38]
Chr19:7593169 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.32-2A>G single nucleotide variant Mucolipidosis type IV [RCV000671073] Chr19:7524959 [GRCh38]
Chr19:7589845 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1134+2T>C single nucleotide variant Mucolipidosis type IV [RCV000671408] Chr19:7528972 [GRCh38]
Chr19:7593858 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.973_984+10del deletion Mucolipidosis type IV [RCV000671858] Chr19:7528684..7528705 [GRCh38]
Chr19:7593570..7593591 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1621del (p.Ile541fs) deletion Mucolipidosis type IV [RCV000668136] Chr19:7533568 [GRCh38]
Chr19:7598454 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1011G>A (p.Gln337=) single nucleotide variant Mucolipidosis type IV [RCV001447115]|not provided [RCV000675741] Chr19:7528847 [GRCh38]
Chr19:7593733 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs) duplication Mucolipidosis type IV [RCV000664931] Chr19:7524964..7524965 [GRCh38]
Chr19:7589850..7589851 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.1717GAG[1] (p.Glu574del) microsatellite Mucolipidosis type IV [RCV000671005] Chr19:7533768..7533770 [GRCh38]
Chr19:7598654..7598656 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1735del (p.Leu578_Val579insTer) deletion Mucolipidosis type IV [RCV000668592] Chr19:7533786 [GRCh38]
Chr19:7598672 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.681-19A>C single nucleotide variant Mucolipidosis type IV [RCV000673766] Chr19:7527845 [GRCh38]
Chr19:7592731 [GRCh37]
Chr19:19p13.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.32-10A>G single nucleotide variant Mucolipidosis type IV [RCV001084440]|not provided [RCV000675735] Chr19:7524951 [GRCh38]
Chr19:7589837 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=) single nucleotide variant Inborn genetic diseases [RCV002369808]|Mucolipidosis type IV [RCV001086656]|not provided [RCV000675743] Chr19:7529625 [GRCh38]
Chr19:7594511 [GRCh37]
Chr19:19p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020533.3(MCOLN1):c.777+12dup duplication Mucolipidosis type IV [RCV000664726] Chr19:7527966..7527967 [GRCh38]
Chr19:7592852..7592853 [GRCh37]
Chr19:19p13.2		 benign|likely benign
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_020533.3(MCOLN1):c.877+6C>T single nucleotide variant Mucolipidosis type IV [RCV000694216] Chr19:7528263 [GRCh38]
Chr19:7593149 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.589C>A (p.Pro197Thr) single nucleotide variant Mucolipidosis type IV [RCV000689558] Chr19:7527537 [GRCh38]
Chr19:7592423 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_020533.3(MCOLN1):c.1446G>A (p.Ala482=) single nucleotide variant Mucolipidosis type IV [RCV001410458] Chr19:7530372 [GRCh38]
Chr19:7595258 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1135-4G>A single nucleotide variant Mucolipidosis type IV [RCV000939915] Chr19:7529097 [GRCh38]
Chr19:7593983 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.237+5G>A single nucleotide variant Mucolipidosis type IV [RCV000761496] Chr19:7525171 [GRCh38]
Chr19:7590057 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1707-7C>T single nucleotide variant Mucolipidosis type IV [RCV001135690] Chr19:7533752 [GRCh38]
Chr19:7598638 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.572-226_572-225dup duplication not provided [RCV001565730] Chr19:7527271..7527272 [GRCh38]
Chr19:7592157..7592158 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2(chr19:7508522-7624054)x3 copy number gain not provided [RCV000752546] Chr19:7508522..7624054 [GRCh37]
Chr19:19p13.2		 benign
GRCh37/hg19 19p13.2(chr19:7527216-7611117)x3 copy number gain not provided [RCV000752547] Chr19:7527216..7611117 [GRCh37]
Chr19:19p13.2		 benign
GRCh37/hg19 19p13.2(chr19:7527216-7618660)x3 copy number gain not provided [RCV000752548] Chr19:7527216..7618660 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.1576-7T>C single nucleotide variant Mucolipidosis type IV [RCV000925671] Chr19:7533516 [GRCh38]
Chr19:7598402 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.333C>T (p.Asp111=) single nucleotide variant Mucolipidosis type IV [RCV000927455] Chr19:7526534 [GRCh38]
Chr19:7591420 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.114G>A (p.Glu38=) single nucleotide variant Mucolipidosis type IV [RCV001457859] Chr19:7525043 [GRCh38]
Chr19:7589929 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.264G>A (p.Gln88=) single nucleotide variant MCOLN1-related disorder [RCV003912840]|Mucolipidosis type IV [RCV000899450] Chr19:7526465 [GRCh38]
Chr19:7591351 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.531G>A (p.Pro177=) single nucleotide variant Mucolipidosis type IV [RCV000966286]|not provided [RCV003413759] Chr19:7526886 [GRCh38]
Chr19:7591772 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1599G>A (p.Glu533=) single nucleotide variant Mucolipidosis type IV [RCV001505050] Chr19:7533546 [GRCh38]
Chr19:7598432 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1698C>T (p.Cys566=) single nucleotide variant Mucolipidosis type IV [RCV000944134] Chr19:7533645 [GRCh38]
Chr19:7598531 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1044G>A (p.Leu348=) single nucleotide variant Mucolipidosis type IV [RCV001432772] Chr19:7528880 [GRCh38]
Chr19:7593766 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.876C>T (p.His292=) single nucleotide variant Inborn genetic diseases [RCV004629381]|Mucolipidosis type IV [RCV000915158] Chr19:7528256 [GRCh38]
Chr19:7593142 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_020533.3(MCOLN1):c.948C>T (p.Cys316=) single nucleotide variant Mucolipidosis type IV [RCV000882776] Chr19:7528667 [GRCh38]
Chr19:7593553 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1575+8G>A single nucleotide variant Mucolipidosis type IV [RCV000902880] Chr19:7530509 [GRCh38]
Chr19:7595395 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=) single nucleotide variant Inborn genetic diseases [RCV004629385]|Mucolipidosis type IV [RCV000926103] Chr19:7526540 [GRCh38]
Chr19:7591426 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val) single nucleotide variant Mucolipidosis type IV [RCV000915499] Chr19:7528836 [GRCh38]
Chr19:7593722 [GRCh37]
Chr19:19p13.2		 benign|conflicting interpretations of pathogenicity
NM_020533.3(MCOLN1):c.63G>A (p.Gly21=) single nucleotide variant Mucolipidosis type IV [RCV000944340] Chr19:7524992 [GRCh38]
Chr19:7589878 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1467G>A (p.Leu489=) single nucleotide variant Mucolipidosis type IV [RCV000980942] Chr19:7530393 [GRCh38]
Chr19:7595279 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.423C>T (p.Asp141=) single nucleotide variant Mucolipidosis type IV [RCV000899477] Chr19:7526778 [GRCh38]
Chr19:7591664 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.666G>A (p.Thr222=) single nucleotide variant Mucolipidosis type IV [RCV000943905] Chr19:7527614 [GRCh38]
Chr19:7592500 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=) single nucleotide variant Inborn genetic diseases [RCV002400125]|MCOLN1-related disorder [RCV003936119]|Mucolipidosis type IV [RCV000971339] Chr19:7533531 [GRCh38]
Chr19:7598417 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_020533.3(MCOLN1):c.609G>T (p.Pro203=) single nucleotide variant Mucolipidosis type IV [RCV000983631] Chr19:7527557 [GRCh38]
Chr19:7592443 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.234G>A (p.Val78=) single nucleotide variant Mucolipidosis type IV [RCV003505143] Chr19:7525163 [GRCh38]
Chr19:7590049 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.504G>A (p.Arg168=) single nucleotide variant Inborn genetic diseases [RCV004029536]|Mucolipidosis type IV [RCV000928348] Chr19:7526859 [GRCh38]
Chr19:7591745 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.840C>T (p.His280=) single nucleotide variant Mucolipidosis type IV [RCV001275825] Chr19:7528220 [GRCh38]
Chr19:7593106 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1680C>G (p.Ala560=) single nucleotide variant Mucolipidosis type IV [RCV001449307] Chr19:7533627 [GRCh38]
Chr19:7598513 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.813C>T (p.Ile271=) single nucleotide variant Mucolipidosis type IV [RCV000970770] Chr19:7528193 [GRCh38]
Chr19:7593079 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1135-5C>T single nucleotide variant Mucolipidosis type IV [RCV000941469] Chr19:7529096 [GRCh38]
Chr19:7593982 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1716G>C (p.Ser572=) single nucleotide variant Mucolipidosis type IV [RCV000930769] Chr19:7533768 [GRCh38]
Chr19:7598654 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln) single nucleotide variant Mucolipidosis type IV [RCV000901293]|Mucolipidosis type IV [RCV005392526]|not provided [RCV004704296] Chr19:7527890 [GRCh38]
Chr19:7592776 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.1371C>A (p.Leu457=) single nucleotide variant Mucolipidosis type IV [RCV001477829] Chr19:7530297 [GRCh38]
Chr19:7595183 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.877G>A (p.Gly293Arg) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000984499] Chr19:7528257 [GRCh38]
Chr19:7593143 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1158C>T (p.Cys386=) single nucleotide variant Mucolipidosis type IV [RCV000919967] Chr19:7529124 [GRCh38]
Chr19:7594010 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1149C>T (p.Tyr383=) single nucleotide variant Mucolipidosis type IV [RCV001500967] Chr19:7529115 [GRCh38]
Chr19:7594001 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.498C>T (p.Cys166=) single nucleotide variant Mucolipidosis type IV [RCV000978693] Chr19:7526853 [GRCh38]
Chr19:7591739 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.81G>A (p.Gly27=) single nucleotide variant Mucolipidosis type IV [RCV000979981] Chr19:7525010 [GRCh38]
Chr19:7589896 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.753G>A (p.Pro251=) single nucleotide variant Mucolipidosis type IV [RCV001405535] Chr19:7527936 [GRCh38]
Chr19:7592822 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1182G>A (p.Thr394=) single nucleotide variant Mucolipidosis type IV [RCV000883326]|not provided [RCV002264044] Chr19:7529148 [GRCh38]
Chr19:7594034 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1344G>C (p.Gly448=) single nucleotide variant Mucolipidosis type IV [RCV000922167] Chr19:7529697 [GRCh38]
Chr19:7594583 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1680C>T (p.Ala560=) single nucleotide variant Mucolipidosis type IV [RCV000902374]|not provided [RCV003413718] Chr19:7533627 [GRCh38]
Chr19:7598513 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1575+10A>C single nucleotide variant Mucolipidosis type IV [RCV000920388] Chr19:7530511 [GRCh38]
Chr19:7595397 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.445dup (p.Tyr149fs) duplication Mucolipidosis type IV [RCV000818854] Chr19:7526799..7526800 [GRCh38]
Chr19:7591685..7591686 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.589C>T (p.Pro197Ser) single nucleotide variant Inborn genetic diseases [RCV002538037]|Mucolipidosis type IV [RCV000808567]|not provided [RCV001092938] Chr19:7527537 [GRCh38]
Chr19:7592423 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.*180T>C single nucleotide variant Mucolipidosis type IV [RCV001135691] Chr19:7533975 [GRCh38]
Chr19:7598861 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=) single nucleotide variant Mucolipidosis type IV [RCV001134056] Chr19:7526784 [GRCh38]
Chr19:7591670 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.611C>G (p.Pro204Arg) single nucleotide variant Mucolipidosis type IV [RCV001134057] Chr19:7527559 [GRCh38]
Chr19:7592445 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1360-10C>T single nucleotide variant Mucolipidosis type IV [RCV001134182] Chr19:7530276 [GRCh38]
Chr19:7595162 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.362C>T (p.Thr121Met) single nucleotide variant Mucolipidosis type IV [RCV001090124]|Retinal dystrophy [RCV004813725]|not provided [RCV002292604] Chr19:7526563 [GRCh38]
Chr19:7591449 [GRCh37]
Chr19:19p13.2		 likely pathogenic|uncertain significance
NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln) single nucleotide variant MCOLN1-related disorder [RCV003943107]|Mucolipidosis type IV [RCV000961207]|Mucolipidosis type IV [RCV005392587]|not provided [RCV003148900] Chr19:7526506 [GRCh38]
Chr19:7591392 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.71C>A (p.Thr24Asn) single nucleotide variant Mucolipidosis type IV [RCV000822743]|not provided [RCV004693395] Chr19:7525000 [GRCh38]
Chr19:7589886 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.36C>T (p.Thr12=) single nucleotide variant Inborn genetic diseases [RCV003307686]|Mucolipidosis type IV [RCV000919368] Chr19:7524965 [GRCh38]
Chr19:7589851 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=) single nucleotide variant Mucolipidosis type IV [RCV000896977]|not provided [RCV004704285] Chr19:7528910 [GRCh38]
Chr19:7593796 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1581C>T (p.Pro527=) single nucleotide variant Mucolipidosis type IV [RCV000976700] Chr19:7533528 [GRCh38]
Chr19:7598414 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1335C>T (p.Ile445=) single nucleotide variant Mucolipidosis type IV [RCV000981427] Chr19:7529688 [GRCh38]
Chr19:7594574 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.611C>T (p.Pro204Leu) single nucleotide variant Mucolipidosis type IV [RCV001240475] Chr19:7527559 [GRCh38]
Chr19:7592445 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1270A>G (p.Ser424Gly) single nucleotide variant Inborn genetic diseases [RCV003290393] Chr19:7529623 [GRCh38]
Chr19:7594509 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1706+11C>T single nucleotide variant Mucolipidosis type IV [RCV001135689] Chr19:7533664 [GRCh38]
Chr19:7598550 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.2(MCOLN1):c.*227G>C single nucleotide variant Mucolipidosis type IV [RCV001135692] Chr19:7534022 [GRCh38]
Chr19:7598908 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.680+4C>T single nucleotide variant Mucolipidosis type IV [RCV001246041] Chr19:7527632 [GRCh38]
Chr19:7592518 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.874_877delinsTACT (p.His292_Gly293delinsTyrTer) indel Mucolipidosis type IV [RCV001246653] Chr19:7528254..7528257 [GRCh38]
Chr19:7593140..7593143 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1075G>A (p.Val359Ile) single nucleotide variant Inborn genetic diseases [RCV003358128]|Mucolipidosis type IV [RCV003104899] Chr19:7528911 [GRCh38]
Chr19:7593797 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.62G>A (p.Gly21Glu) single nucleotide variant Mucolipidosis type IV [RCV001578709] Chr19:7524991 [GRCh38]
Chr19:7589877 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.31+129G>A single nucleotide variant not provided [RCV001583768] Chr19:7522910 [GRCh38]
Chr19:7587796 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.10:g.7522422C>G single nucleotide variant not provided [RCV001575361] Chr19:7522422 [GRCh38]
Chr19:7587308 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-10C>T single nucleotide variant Mucolipidosis type IV [RCV000940750] Chr19:7528587 [GRCh38]
Chr19:7593473 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-4G>A single nucleotide variant Mucolipidosis type IV [RCV000883329] Chr19:7528593 [GRCh38]
Chr19:7593479 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.228C>T (p.Val76=) single nucleotide variant Mucolipidosis type IV [RCV001491496] Chr19:7525157 [GRCh38]
Chr19:7590043 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1434C>T (p.Ala478=) single nucleotide variant Inborn genetic diseases [RCV002390954]|Mucolipidosis type IV [RCV000933215] Chr19:7530360 [GRCh38]
Chr19:7595246 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-3dup duplication MCOLN1-related disorder [RCV003897977]|Mucolipidosis type IV [RCV000977429] Chr19:7533516..7533517 [GRCh38]
Chr19:7598402..7598403 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1032G>C (p.Leu344=) single nucleotide variant Mucolipidosis type IV [RCV000931094] Chr19:7528868 [GRCh38]
Chr19:7593754 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.159C>T (p.Cys53=) single nucleotide variant Mucolipidosis type IV [RCV001396205] Chr19:7525088 [GRCh38]
Chr19:7589974 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1428G>A (p.Thr476=) single nucleotide variant Mucolipidosis type IV [RCV000941323] Chr19:7530354 [GRCh38]
Chr19:7595240 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1197G>T (p.Val399=) single nucleotide variant Mucolipidosis type IV [RCV000899432] Chr19:7529163 [GRCh38]
Chr19:7594049 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.572-8G>A single nucleotide variant Mucolipidosis type IV [RCV000882417] Chr19:7527512 [GRCh38]
Chr19:7592398 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1083C>T (p.Ser361=) single nucleotide variant MCOLN1-related disorder [RCV003932941]|Mucolipidosis type IV [RCV001409940] Chr19:7528919 [GRCh38]
Chr19:7593805 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=) single nucleotide variant Mucolipidosis type IV [RCV000932964] Chr19:7528868 [GRCh38]
Chr19:7593754 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_020533.3(MCOLN1):c.303C>T (p.Phe101=) single nucleotide variant Mucolipidosis type IV [RCV000932982] Chr19:7526504 [GRCh38]
Chr19:7591390 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.93C>A (p.Ala31=) single nucleotide variant not provided [RCV000920923] Chr19:7525022 [GRCh38]
Chr19:7589908 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.467C>T (p.Pro156Leu) single nucleotide variant Mucolipidosis type IV [RCV001244557] Chr19:7526822 [GRCh38]
Chr19:7591708 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1135-14G>A single nucleotide variant Mucolipidosis type IV [RCV001131220] Chr19:7529087 [GRCh38]
Chr19:7593973 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.166_182del (p.Phe56fs) deletion Mucolipidosis type IV [RCV001223600] Chr19:7525094..7525110 [GRCh38]
Chr19:7589980..7589996 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.680+14A>T single nucleotide variant Mucolipidosis type IV [RCV001134058]|not provided [RCV001664702] Chr19:7527642 [GRCh38]
Chr19:7592528 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_020533.3(MCOLN1):c.1590A>C (p.Ala530=) single nucleotide variant Mucolipidosis type IV [RCV001134186] Chr19:7533537 [GRCh38]
Chr19:7598423 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.192C>A (p.Cys64Ter) single nucleotide variant Mucolipidosis type IV [RCV001037343] Chr19:7525121 [GRCh38]
Chr19:7590007 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.772G>A (p.Val258Ile) single nucleotide variant Inborn genetic diseases [RCV004032301]|Mucolipidosis type IV [RCV001135563] Chr19:7527955 [GRCh38]
Chr19:7592841 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NC_000019.9:g.(?_7587617)_(8373194_?)dup duplication Familial hemophagocytic lymphohistiocytosis 5 [RCV001031629] Chr19:7587617..8373194 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.621C>T (p.Asp207=) single nucleotide variant Mucolipidosis type IV [RCV000958236] Chr19:7527569 [GRCh38]
Chr19:7592455 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=) single nucleotide variant Inborn genetic diseases [RCV004639406]|MCOLN1-related disorder [RCV003950769]|Mucolipidosis type IV [RCV000912720] Chr19:7525145 [GRCh38]
Chr19:7590031 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=) single nucleotide variant Mucolipidosis type IV [RCV000934223] Chr19:7526466 [GRCh38]
Chr19:7591352 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.571+76C>T single nucleotide variant not provided [RCV001562092] Chr19:7527002 [GRCh38]
Chr19:7591888 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.41G>A (p.Arg14Gln) single nucleotide variant Mucolipidosis type IV [RCV001578710] Chr19:7524970 [GRCh38]
Chr19:7589856 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1672G>C (p.Gly558Arg) single nucleotide variant Mucolipidosis type IV [RCV001578711] Chr19:7533619 [GRCh38]
Chr19:7598505 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.502C>T (p.Arg168Trp) single nucleotide variant Mucolipidosis type IV [RCV001578712] Chr19:7526857 [GRCh38]
Chr19:7591743 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1576-29A>G single nucleotide variant not provided [RCV001549399] Chr19:7533494 [GRCh38]
Chr19:7598380 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+73G>T single nucleotide variant not provided [RCV001595663] Chr19:7526679 [GRCh38]
Chr19:7591565 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.1237-154C>T single nucleotide variant not provided [RCV001594175] Chr19:7529436 [GRCh38]
Chr19:7594322 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.880_881del (p.Asp294fs) microsatellite Mucolipidosis type IV [RCV001066766] Chr19:7528597..7528598 [GRCh38]
Chr19:7593483..7593484 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.321_328del (p.Tyr109fs) deletion not provided [RCV001008361] Chr19:7526520..7526527 [GRCh38]
Chr19:7591406..7591413 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NC_000019.10:g.7522487G>A single nucleotide variant not provided [RCV001608238] Chr19:7522487 [GRCh38]
Chr19:7587373 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn) single nucleotide variant Mucolipidosis type IV [RCV001135564]|not provided [RCV002275182] Chr19:7528236 [GRCh38]
Chr19:7593122 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.571+91A>G single nucleotide variant not provided [RCV001621878] Chr19:7527017 [GRCh38]
Chr19:7591903 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.571+206C>T single nucleotide variant not provided [RCV001658709] Chr19:7527132 [GRCh38]
Chr19:7592018 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.572-249C>A single nucleotide variant not provided [RCV001618151] Chr19:7527271 [GRCh38]
Chr19:7592157 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.572-226_572-225del deletion not provided [RCV001698613] Chr19:7527272..7527273 [GRCh38]
Chr19:7592158..7592159 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.1706+40G>C single nucleotide variant not provided [RCV001713250] Chr19:7533693 [GRCh38]
Chr19:7598579 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.78G>A (p.Ala26=) single nucleotide variant Inborn genetic diseases [RCV004639477]|Mucolipidosis type IV [RCV001130386] Chr19:7525007 [GRCh38]
Chr19:7589893 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.189C>T (p.Pro63=) single nucleotide variant Mucolipidosis type IV [RCV001131104] Chr19:7525118 [GRCh38]
Chr19:7590004 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1255C>T (p.Arg419Trp) single nucleotide variant Mucolipidosis type IV [RCV001131222] Chr19:7529608 [GRCh38]
Chr19:7594494 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1308C>G (p.Tyr436Ter) single nucleotide variant Mucolipidosis type IV [RCV001004614] Chr19:7529661 [GRCh38]
Chr19:7594547 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.413C>T (p.Ala138Val) single nucleotide variant Mucolipidosis type IV [RCV001131106]|not provided [RCV004694825] Chr19:7526768 [GRCh38]
Chr19:7591654 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.230C>T (p.Thr77Met) single nucleotide variant Mucolipidosis type IV [RCV001030782] Chr19:7525159 [GRCh38]
Chr19:7590045 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1236+71G>A single nucleotide variant not provided [RCV001609646] Chr19:7529273 [GRCh38]
Chr19:7594159 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.572-225del deletion not provided [RCV001695548] Chr19:7527272 [GRCh38]
Chr19:7592158 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.777+94C>T single nucleotide variant not provided [RCV001588170] Chr19:7528054 [GRCh38]
Chr19:7592940 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.-102T>G single nucleotide variant Mucolipidosis type IV [RCV001130383] Chr19:7522649 [GRCh38]
Chr19:7587535 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.985-15G>C single nucleotide variant Mucolipidosis type IV [RCV001130499] Chr19:7528806 [GRCh38]
Chr19:7593692 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1149C>G (p.Tyr383Ter) single nucleotide variant Mucolipidosis type IV [RCV001004613] Chr19:7529115 [GRCh38]
Chr19:7594001 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.213C>T (p.Val71=) single nucleotide variant Inborn genetic diseases [RCV003293893]|Mucolipidosis type IV [RCV001131105] Chr19:7525142 [GRCh38]
Chr19:7590028 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.1040G>A (p.Arg347Gln) single nucleotide variant Mucolipidosis type IV [RCV001131219] Chr19:7528876 [GRCh38]
Chr19:7593762 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1156T>G (p.Cys386Gly) single nucleotide variant Mucolipidosis type IV [RCV001131221] Chr19:7529122 [GRCh38]
Chr19:7594008 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1516A>G (p.Ile506Val) single nucleotide variant Mucolipidosis type IV [RCV001134185] Chr19:7530442 [GRCh38]
Chr19:7595328 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=) single nucleotide variant Hereditary spastic paraplegia 39 [RCV001134184]|Mucolipidosis type IV [RCV001134183] Chr19:7530384 [GRCh38]
Chr19:7595270 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.24C>T (p.Arg8=) single nucleotide variant Inborn genetic diseases [RCV002429771]|Mucolipidosis type IV [RCV001130384] Chr19:7522774 [GRCh38]
Chr19:7587660 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.32-12C>A single nucleotide variant Mucolipidosis type IV [RCV001130385] Chr19:7524949 [GRCh38]
Chr19:7589835 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020533.3(MCOLN1):c.204G>A (p.Leu68=) single nucleotide variant Mucolipidosis type IV [RCV001279356] Chr19:7525133 [GRCh38]
Chr19:7590019 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.61G>A (p.Gly21Arg) single nucleotide variant Inborn genetic diseases [RCV002996406]|Mucolipidosis type IV [RCV003005198]|not provided [RCV004817162] Chr19:7524990 [GRCh38]
Chr19:7589876 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.543A>G (p.Thr181=) single nucleotide variant Mucolipidosis type IV [RCV001392509] Chr19:7526898 [GRCh38]
Chr19:7591784 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1174A>G (p.Thr392Ala) single nucleotide variant Mucolipidosis type IV [RCV001337797] Chr19:7529140 [GRCh38]
Chr19:7594026 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.538G>A (p.Asp180Asn) single nucleotide variant Mucolipidosis type IV [RCV001372131] Chr19:7526893 [GRCh38]
Chr19:7591779 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.483A>G (p.Ser161=) single nucleotide variant Mucolipidosis type IV [RCV001433058] Chr19:7526838 [GRCh38]
Chr19:7591724 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.135C>G (p.Leu45=) single nucleotide variant Mucolipidosis type IV [RCV001422593] Chr19:7525064 [GRCh38]
Chr19:7589950 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1056T>C (p.Asn352=) single nucleotide variant Mucolipidosis type IV [RCV001414602] Chr19:7528892 [GRCh38]
Chr19:7593778 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-5C>A single nucleotide variant Mucolipidosis type IV [RCV001421382] Chr19:7533518 [GRCh38]
Chr19:7598404 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.510C>T (p.Tyr170=) single nucleotide variant Mucolipidosis type IV [RCV001396541] Chr19:7526865 [GRCh38]
Chr19:7591751 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1110C>T (p.Ile370=) single nucleotide variant Mucolipidosis type IV [RCV001414029] Chr19:7528946 [GRCh38]
Chr19:7593832 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.89C>T (p.Pro30Leu) single nucleotide variant Inborn genetic diseases [RCV003169686]|Mucolipidosis type IV [RCV001346354] Chr19:7525018 [GRCh38]
Chr19:7589904 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.338C>T (p.Ala113Val) single nucleotide variant Mucolipidosis type IV [RCV001279357]|Mucolipidosis type IV [RCV005394896] Chr19:7526539 [GRCh38]
Chr19:7591425 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.443C>T (p.Ala148Val) single nucleotide variant Mucolipidosis type IV [RCV001279358] Chr19:7526798 [GRCh38]
Chr19:7591684 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.452G>A (p.Arg151His) single nucleotide variant Mucolipidosis type IV [RCV002547622]|not provided [RCV001355906] Chr19:7526807 [GRCh38]
Chr19:7591693 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1079C>T (p.Thr360Ile) single nucleotide variant Mucolipidosis type IV [RCV001279359]|not specified [RCV004587104] Chr19:7528915 [GRCh38]
Chr19:7593801 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.785T>C (p.Phe262Ser) single nucleotide variant Mucolipidosis type IV [RCV001329760] Chr19:7528165 [GRCh38]
Chr19:7593051 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.778-5C>T single nucleotide variant Mucolipidosis type IV [RCV001413774] Chr19:7528153 [GRCh38]
Chr19:7593039 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.*8T>C single nucleotide variant Mucolipidosis type IV [RCV001279360] Chr19:7533803 [GRCh38]
Chr19:7598689 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1608G>A (p.Glu536=) single nucleotide variant Inborn genetic diseases [RCV002395883]|Mucolipidosis type IV [RCV001394986] Chr19:7533555 [GRCh38]
Chr19:7598441 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.777+10C>T single nucleotide variant Mucolipidosis type IV [RCV001421369] Chr19:7527970 [GRCh38]
Chr19:7592856 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.6A>G (p.Thr2=) single nucleotide variant Mucolipidosis type IV [RCV001413628] Chr19:7522756 [GRCh38]
Chr19:7587642 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.210G>A (p.Val70=) single nucleotide variant Mucolipidosis type IV [RCV001395028] Chr19:7525139 [GRCh38]
Chr19:7590025 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1563C>T (p.Tyr521=) single nucleotide variant Inborn genetic diseases [RCV002405138]|Mucolipidosis type IV [RCV001482362] Chr19:7530489 [GRCh38]
Chr19:7595375 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.291C>T (p.Asn97=) single nucleotide variant Mucolipidosis type IV [RCV001473147] Chr19:7526492 [GRCh38]
Chr19:7591378 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.846G>A (p.Gln282=) single nucleotide variant Mucolipidosis type IV [RCV001461085] Chr19:7528226 [GRCh38]
Chr19:7593112 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter) single nucleotide variant Mucolipidosis type IV [RCV001384670] Chr19:7525088 [GRCh38]
Chr19:7589974 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.984+10C>T single nucleotide variant Mucolipidosis type IV [RCV001487380] Chr19:7528713 [GRCh38]
Chr19:7593599 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1245C>T (p.Ile415=) single nucleotide variant Mucolipidosis type IV [RCV001485785] Chr19:7529598 [GRCh38]
Chr19:7594484 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1107C>T (p.Thr369=) single nucleotide variant Mucolipidosis type IV [RCV001492503] Chr19:7528943 [GRCh38]
Chr19:7593829 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.117A>G (p.Glu39=) single nucleotide variant Mucolipidosis type IV [RCV001454321] Chr19:7525046 [GRCh38]
Chr19:7589932 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.238-10C>G single nucleotide variant Mucolipidosis type IV [RCV001457624] Chr19:7526429 [GRCh38]
Chr19:7591315 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+13_405+30del deletion Mucolipidosis type IV [RCV001492646] Chr19:7526604..7526621 [GRCh38]
Chr19:7591490..7591507 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1455C>A (p.Gly485=) single nucleotide variant Mucolipidosis type IV [RCV001496728] Chr19:7530381 [GRCh38]
Chr19:7595267 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+61T>C single nucleotide variant Mucolipidosis type IV [RCV001527277] Chr19:7526667 [GRCh38]
Chr19:7591553 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.537C>T (p.Asn179=) single nucleotide variant Inborn genetic diseases [RCV002350932]|Mucolipidosis type IV [RCV001459216] Chr19:7526892 [GRCh38]
Chr19:7591778 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.363G>A (p.Thr121=) single nucleotide variant Inborn genetic diseases [RCV002456723]|Mucolipidosis type IV [RCV001436446] Chr19:7526564 [GRCh38]
Chr19:7591450 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1392G>A (p.Leu464=) single nucleotide variant Mucolipidosis type IV [RCV001475567] Chr19:7530318 [GRCh38]
Chr19:7595204 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+64G>T single nucleotide variant Mucolipidosis type IV [RCV001527278] Chr19:7526670 [GRCh38]
Chr19:7591556 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1053C>G (p.Val351=) single nucleotide variant Mucolipidosis type IV [RCV001500095] Chr19:7528889 [GRCh38]
Chr19:7593775 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.942C>T (p.Leu314=) single nucleotide variant Mucolipidosis type IV [RCV001502955] Chr19:7528661 [GRCh38]
Chr19:7593547 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.414G>T (p.Ala138=) single nucleotide variant Mucolipidosis type IV [RCV001502971] Chr19:7526769 [GRCh38]
Chr19:7591655 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1125C>T (p.Ile375=) single nucleotide variant Mucolipidosis type IV [RCV001505486] Chr19:7528961 [GRCh38]
Chr19:7593847 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1734G>T (p.Leu578=) single nucleotide variant Mucolipidosis type IV [RCV001459695] Chr19:7533786 [GRCh38]
Chr19:7598672 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1683C>T (p.Cys561=) single nucleotide variant Mucolipidosis type IV [RCV001439579] Chr19:7533630 [GRCh38]
Chr19:7598516 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.680+10G>A single nucleotide variant Mucolipidosis type IV [RCV001405680] Chr19:7527638 [GRCh38]
Chr19:7592524 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-6C>T single nucleotide variant Mucolipidosis type IV [RCV001489026] Chr19:7528152 [GRCh38]
Chr19:7593038 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1059C>G (p.Gly353=) single nucleotide variant Mucolipidosis type IV [RCV001474397] Chr19:7528895 [GRCh38]
Chr19:7593781 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.351C>T (p.Phe117=) single nucleotide variant Inborn genetic diseases [RCV005372713]|Mucolipidosis type IV [RCV001452710] Chr19:7526552 [GRCh38]
Chr19:7591438 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.594C>T (p.Pro198=) single nucleotide variant Mucolipidosis type IV [RCV001403441] Chr19:7527542 [GRCh38]
Chr19:7592428 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.345C>T (p.Asp115=) single nucleotide variant Mucolipidosis type IV [RCV001397763] Chr19:7526546 [GRCh38]
Chr19:7591432 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1485G>A (p.Gln495=) single nucleotide variant Mucolipidosis type IV [RCV001455748] Chr19:7530411 [GRCh38]
Chr19:7595297 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1390C>T (p.Leu464=) single nucleotide variant Mucolipidosis type IV [RCV001460288] Chr19:7530316 [GRCh38]
Chr19:7595202 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1575+10A>G single nucleotide variant Mucolipidosis type IV [RCV001489355] Chr19:7530511 [GRCh38]
Chr19:7595397 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1293C>T (p.Cys431=) single nucleotide variant Mucolipidosis type IV [RCV001489390] Chr19:7529646 [GRCh38]
Chr19:7594532 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_7586622)_7593056del deletion Mucolipidosis type IV [RCV001383698]   pathogenic
NC_000019.9:g.(?_7586623)_7593055del deletion Mucolipidosis type IV [RCV001383699]   pathogenic
NM_020533.3(MCOLN1):c.406-7C>T single nucleotide variant Mucolipidosis type IV [RCV001466370] Chr19:7526754 [GRCh38]
Chr19:7591640 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.66T>C (p.Tyr22=) single nucleotide variant Mucolipidosis type IV [RCV001456708] Chr19:7524995 [GRCh38]
Chr19:7589881 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.654C>T (p.Tyr218=) single nucleotide variant Mucolipidosis type IV [RCV001403896] Chr19:7527602 [GRCh38]
Chr19:7592488 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.480C>T (p.Gly160=) single nucleotide variant Mucolipidosis type IV [RCV001406247] Chr19:7526835 [GRCh38]
Chr19:7591721 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-8C>T single nucleotide variant Mucolipidosis type IV [RCV001470929] Chr19:7528589 [GRCh38]
Chr19:7593475 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1692C>G (p.Leu564=) single nucleotide variant Mucolipidosis type IV [RCV001488292] Chr19:7533639 [GRCh38]
Chr19:7598525 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-5C>T single nucleotide variant Mucolipidosis type IV [RCV001431989] Chr19:7533518 [GRCh38]
Chr19:7598404 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1533C>T (p.Ser511=) single nucleotide variant Mucolipidosis type IV [RCV001432042] Chr19:7530459 [GRCh38]
Chr19:7595345 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1506C>A (p.Ile502=) single nucleotide variant Mucolipidosis type IV [RCV001468988] Chr19:7530432 [GRCh38]
Chr19:7595318 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.777+10C>G single nucleotide variant Mucolipidosis type IV [RCV001401607] Chr19:7527970 [GRCh38]
Chr19:7592856 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_7586622)_7593054del deletion Mucolipidosis type IV [RCV001385971]   pathogenic
NM_020533.3(MCOLN1):c.499C>T (p.Gln167Ter) single nucleotide variant Mucolipidosis type IV [RCV001388005]|Mucolipidosis type IV [RCV005014542] Chr19:7526854 [GRCh38]
Chr19:7591740 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.1329C>T (p.Gly443=) single nucleotide variant Mucolipidosis type IV [RCV001402197] Chr19:7529682 [GRCh38]
Chr19:7594568 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.618C>T (p.Ser206=) single nucleotide variant Mucolipidosis type IV [RCV001400736] Chr19:7527566 [GRCh38]
Chr19:7592452 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.639A>G (p.Glu213=) single nucleotide variant Mucolipidosis type IV [RCV001440877] Chr19:7527587 [GRCh38]
Chr19:7592473 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1545G>A (p.Ala515=) single nucleotide variant Mucolipidosis type IV [RCV001427919]|not provided [RCV003426094] Chr19:7530471 [GRCh38]
Chr19:7595357 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.594C>G (p.Pro198=) single nucleotide variant Mucolipidosis type IV [RCV001404672] Chr19:7527542 [GRCh38]
Chr19:7592428 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1152C>T (p.Asp384=) single nucleotide variant Mucolipidosis type IV [RCV001432776] Chr19:7529118 [GRCh38]
Chr19:7594004 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.249T>C (p.Phe83=) single nucleotide variant Mucolipidosis type IV [RCV001393209] Chr19:7526450 [GRCh38]
Chr19:7591336 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.933G>A (p.Leu311=) single nucleotide variant Mucolipidosis type IV [RCV001399406] Chr19:7528652 [GRCh38]
Chr19:7593538 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.765C>T (p.Thr255=) single nucleotide variant Mucolipidosis type IV [RCV001403464] Chr19:7527948 [GRCh38]
Chr19:7592834 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1119C>T (p.Ile373=) single nucleotide variant Mucolipidosis type IV [RCV001430339] Chr19:7528955 [GRCh38]
Chr19:7593841 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1380G>A (p.Val460=) single nucleotide variant Mucolipidosis type IV [RCV001426676] Chr19:7530306 [GRCh38]
Chr19:7595192 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-5C>T single nucleotide variant Mucolipidosis type IV [RCV001403482] Chr19:7528592 [GRCh38]
Chr19:7593478 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.597G>A (p.Glu199=) single nucleotide variant Mucolipidosis type IV [RCV001425890] Chr19:7527545 [GRCh38]
Chr19:7592431 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.648C>T (p.Ser216=) single nucleotide variant Mucolipidosis type IV [RCV001402694] Chr19:7527596 [GRCh38]
Chr19:7592482 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.406-6C>T single nucleotide variant Mucolipidosis type IV [RCV001439133] Chr19:7526755 [GRCh38]
Chr19:7591641 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1554C>T (p.Thr518=) single nucleotide variant Mucolipidosis type IV [RCV001418950] Chr19:7530480 [GRCh38]
Chr19:7595366 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1650C>T (p.Ser550=) single nucleotide variant Mucolipidosis type IV [RCV001425181] Chr19:7533597 [GRCh38]
Chr19:7598483 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1263C>T (p.Ala421=) single nucleotide variant Mucolipidosis type IV [RCV001440044] Chr19:7529616 [GRCh38]
Chr19:7594502 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.898C>T (p.Leu300=) single nucleotide variant Mucolipidosis type IV [RCV001416027] Chr19:7528617 [GRCh38]
Chr19:7593503 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+1G>C single nucleotide variant Mucolipidosis type IV [RCV001378286] Chr19:7526607 [GRCh38]
Chr19:7591493 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.984+8T>C single nucleotide variant Mucolipidosis type IV [RCV001426844] Chr19:7528711 [GRCh38]
Chr19:7593597 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1269C>G (p.Pro423=) single nucleotide variant Mucolipidosis type IV [RCV001437802] Chr19:7529622 [GRCh38]
Chr19:7594508 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1575+7C>T single nucleotide variant Mucolipidosis type IV [RCV001410568] Chr19:7530508 [GRCh38]
Chr19:7595394 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.915C>T (p.Val305=) single nucleotide variant Mucolipidosis type IV [RCV001417606] Chr19:7528634 [GRCh38]
Chr19:7593520 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.36C>G (p.Thr12=) single nucleotide variant Mucolipidosis type IV [RCV001431237] Chr19:7524965 [GRCh38]
Chr19:7589851 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.572-2A>C single nucleotide variant Mucolipidosis type IV [RCV001379502] Chr19:7527518 [GRCh38]
Chr19:7592404 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1359+7_1359+8dup duplication Mucolipidosis type IV [RCV001431693] Chr19:7529717..7529718 [GRCh38]
Chr19:7594603..7594604 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.594del (p.Glu199fs) deletion Mucolipidosis type IV [RCV001380641] Chr19:7527537 [GRCh38]
Chr19:7592423 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1587C>T (p.Gly529=) single nucleotide variant Mucolipidosis type IV [RCV001447643] Chr19:7533534 [GRCh38]
Chr19:7598420 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.31+4_31+6dup duplication Mucolipidosis type IV [RCV001408782] Chr19:7522783..7522784 [GRCh38]
Chr19:7587669..7587670 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1461C>T (p.Ser487=) single nucleotide variant Mucolipidosis type IV [RCV001393690]|not provided [RCV001532370] Chr19:7530387 [GRCh38]
Chr19:7595273 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.678C>T (p.His226=) single nucleotide variant Mucolipidosis type IV [RCV001435065]|not provided [RCV005057400] Chr19:7527626 [GRCh38]
Chr19:7592512 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.393T>C (p.His131=) single nucleotide variant Mucolipidosis type IV [RCV001411329] Chr19:7526594 [GRCh38]
Chr19:7591480 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1176C>T (p.Thr392=) single nucleotide variant Mucolipidosis type IV [RCV001400314] Chr19:7529142 [GRCh38]
Chr19:7594028 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.444G>A (p.Ala148=) single nucleotide variant Mucolipidosis type IV [RCV001431870] Chr19:7526799 [GRCh38]
Chr19:7591685 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.273G>A (p.Val91=) single nucleotide variant Mucolipidosis type IV [RCV001447997] Chr19:7526474 [GRCh38]
Chr19:7591360 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.771C>T (p.Ser257=) single nucleotide variant Mucolipidosis type IV [RCV001409224] Chr19:7527954 [GRCh38]
Chr19:7592840 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.78G>T (p.Ala26=) single nucleotide variant Mucolipidosis type IV [RCV001438294] Chr19:7525007 [GRCh38]
Chr19:7589893 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.198G>C (p.Leu66=) single nucleotide variant Mucolipidosis type IV [RCV001428532] Chr19:7525127 [GRCh38]
Chr19:7590013 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.906C>T (p.Asp302=) single nucleotide variant Inborn genetic diseases [RCV002377737]|Mucolipidosis type IV [RCV001445806] Chr19:7528625 [GRCh38]
Chr19:7593511 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1191G>A (p.Val397=) single nucleotide variant Mucolipidosis type IV [RCV001450444] Chr19:7529157 [GRCh38]
Chr19:7594043 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1227C>T (p.His409=) single nucleotide variant Mucolipidosis type IV [RCV001489951] Chr19:7529193 [GRCh38]
Chr19:7594079 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1398G>A (p.Ser466=) single nucleotide variant Inborn genetic diseases [RCV002396087]|Mucolipidosis type IV [RCV001461496] Chr19:7530324 [GRCh38]
Chr19:7595210 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.966A>T (p.Arg322=) single nucleotide variant Mucolipidosis type IV [RCV001478933] Chr19:7528685 [GRCh38]
Chr19:7593571 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.309C>T (p.His103=) single nucleotide variant Mucolipidosis type IV [RCV001464700] Chr19:7526510 [GRCh38]
Chr19:7591396 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.414G>A (p.Ala138=) single nucleotide variant Inborn genetic diseases [RCV002329576]|Mucolipidosis type IV [RCV001479236] Chr19:7526769 [GRCh38]
Chr19:7591655 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1548C>T (p.Leu516=) single nucleotide variant Inborn genetic diseases [RCV002405139]|Mucolipidosis type IV [RCV001482855] Chr19:7530474 [GRCh38]
Chr19:7595360 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.57C>T (p.Asn19=) single nucleotide variant Mucolipidosis type IV [RCV001483092]|not provided [RCV004704606] Chr19:7524986 [GRCh38]
Chr19:7589872 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1131C>A (p.Ala377=) single nucleotide variant Mucolipidosis type IV [RCV001476126] Chr19:7528967 [GRCh38]
Chr19:7593853 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.406-38G>A single nucleotide variant Mucolipidosis type IV [RCV001527279]|not provided [RCV001655798] Chr19:7526723 [GRCh38]
Chr19:7591609 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.1071G>T (p.Leu357=) single nucleotide variant Mucolipidosis type IV [RCV001486904] Chr19:7528907 [GRCh38]
Chr19:7593793 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1575+69G>A single nucleotide variant Mucolipidosis type IV [RCV001527283]|not provided [RCV001615225] Chr19:7530570 [GRCh38]
Chr19:7595456 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.1360-117_1360-98del deletion not provided [RCV001667446] Chr19:7530165..7530184 [GRCh38]
Chr19:7595051..7595070 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.572-225dup duplication not provided [RCV001673696] Chr19:7527271..7527272 [GRCh38]
Chr19:7592157..7592158 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.609G>A (p.Pro203=) single nucleotide variant Mucolipidosis type IV [RCV001452514] Chr19:7527557 [GRCh38]
Chr19:7592443 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.572-225A>C single nucleotide variant not provided [RCV001583113] Chr19:7527295 [GRCh38]
Chr19:7592181 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.777+8C>T single nucleotide variant Mucolipidosis type IV [RCV001463743] Chr19:7527968 [GRCh38]
Chr19:7592854 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.51C>T (p.Thr17=) single nucleotide variant Mucolipidosis type IV [RCV001501537] Chr19:7524980 [GRCh38]
Chr19:7589866 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1542C>T (p.Ile514=) single nucleotide variant Mucolipidosis type IV [RCV001460841] Chr19:7530468 [GRCh38]
Chr19:7595354 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1326T>C (p.Cys442=) single nucleotide variant Mucolipidosis type IV [RCV001464087] Chr19:7529679 [GRCh38]
Chr19:7594565 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1236+159C>A single nucleotide variant not provided [RCV001540051] Chr19:7529361 [GRCh38]
Chr19:7594247 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.99G>A (p.Pro33=) single nucleotide variant Mucolipidosis type IV [RCV001477498]|not provided [RCV003886515] Chr19:7525028 [GRCh38]
Chr19:7589914 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.238-4C>T single nucleotide variant Mucolipidosis type IV [RCV001470000] Chr19:7526435 [GRCh38]
Chr19:7591321 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.723C>T (p.Asn241=) single nucleotide variant Inborn genetic diseases [RCV002377807]|Mucolipidosis type IV [RCV001473809] Chr19:7527906 [GRCh38]
Chr19:7592792 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.507C>T (p.Tyr169=) single nucleotide variant Inborn genetic diseases [RCV003161000]|Mucolipidosis type IV [RCV001497215] Chr19:7526862 [GRCh38]
Chr19:7591748 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.222G>A (p.Leu74=) single nucleotide variant Mucolipidosis type IV [RCV001454013] Chr19:7525151 [GRCh38]
Chr19:7590037 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.945C>T (p.Leu315=) single nucleotide variant Mucolipidosis type IV [RCV001486550] Chr19:7528664 [GRCh38]
Chr19:7593550 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1665C>T (p.Arg555=) single nucleotide variant Mucolipidosis type IV [RCV001440227] Chr19:7533612 [GRCh38]
Chr19:7598498 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.252G>A (p.Gly84=) single nucleotide variant Mucolipidosis type IV [RCV001484821] Chr19:7526453 [GRCh38]
Chr19:7591339 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1182G>C (p.Thr394=) single nucleotide variant Mucolipidosis type IV [RCV001455817] Chr19:7529148 [GRCh38]
Chr19:7594034 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter) single nucleotide variant Mucolipidosis type IV [RCV001385399]|Mucolipidosis type IV [RCV005023146] Chr19:7525098 [GRCh38]
Chr19:7589984 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.585G>A (p.Val195=) single nucleotide variant Mucolipidosis type IV [RCV001438328] Chr19:7527533 [GRCh38]
Chr19:7592419 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1706+40G>A single nucleotide variant Mucolipidosis type IV [RCV001527284] Chr19:7533693 [GRCh38]
Chr19:7598579 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.237+8_237+9insG insertion Mucolipidosis type IV [RCV001463222] Chr19:7525174..7525175 [GRCh38]
Chr19:7590060..7590061 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1413C>T (p.Asp471=) single nucleotide variant Mucolipidosis type IV [RCV001456094] Chr19:7530339 [GRCh38]
Chr19:7595225 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.724del (p.Leu242fs) deletion Mucolipidosis type IV [RCV001385590] Chr19:7527906 [GRCh38]
Chr19:7592792 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.297C>T (p.Ile99=) single nucleotide variant Mucolipidosis type IV [RCV001503829] Chr19:7526498 [GRCh38]
Chr19:7591384 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.522C>T (p.His174=) single nucleotide variant Mucolipidosis type IV [RCV001423857] Chr19:7526877 [GRCh38]
Chr19:7591763 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.969C>T (p.Gly323=) single nucleotide variant Mucolipidosis type IV [RCV001436601] Chr19:7528688 [GRCh38]
Chr19:7593574 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1360-98A>G single nucleotide variant Mucolipidosis type IV [RCV001527281]|not provided [RCV001647355] Chr19:7530188 [GRCh38]
Chr19:7595074 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.1360-51C>T single nucleotide variant Mucolipidosis type IV [RCV001527282]|not provided [RCV001676019] Chr19:7530235 [GRCh38]
Chr19:7595121 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.1470G>A (p.Val490=) single nucleotide variant Mucolipidosis type IV [RCV001485310] Chr19:7530396 [GRCh38]
Chr19:7595282 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1566C>T (p.Asp522=) single nucleotide variant Mucolipidosis type IV [RCV001398195] Chr19:7530492 [GRCh38]
Chr19:7595378 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1572C>T (p.Ile524=) single nucleotide variant Mucolipidosis type IV [RCV001452245] Chr19:7530498 [GRCh38]
Chr19:7595384 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1237-2A>C single nucleotide variant Mucolipidosis type IV [RCV001378954] Chr19:7529588 [GRCh38]
Chr19:7594474 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1359+7C>A single nucleotide variant Mucolipidosis type IV [RCV001404830] Chr19:7529719 [GRCh38]
Chr19:7594605 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1707-6C>T single nucleotide variant Mucolipidosis type IV [RCV001479333] Chr19:7533753 [GRCh38]
Chr19:7598639 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.625C>T (p.Leu209Phe) single nucleotide variant Mucolipidosis type IV [RCV001468116] Chr19:7527573 [GRCh38]
Chr19:7592459 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.807G>A (p.Gly269=) single nucleotide variant Mucolipidosis type IV [RCV001471677] Chr19:7528187 [GRCh38]
Chr19:7593073 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.408C>T (p.Tyr136=) single nucleotide variant Mucolipidosis type IV [RCV001495080] Chr19:7526763 [GRCh38]
Chr19:7591649 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.680+7C>T single nucleotide variant Mucolipidosis type IV [RCV001497265] Chr19:7527635 [GRCh38]
Chr19:7592521 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1359+186A>G single nucleotide variant not provided [RCV001536708] Chr19:7529898 [GRCh38]
Chr19:7594784 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1254G>T (p.Leu418=) single nucleotide variant Mucolipidosis type IV [RCV001450357] Chr19:7529607 [GRCh38]
Chr19:7594493 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.603C>T (p.Pro201=) single nucleotide variant Mucolipidosis type IV [RCV001463815] Chr19:7527551 [GRCh38]
Chr19:7592437 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.600G>T (p.Arg200=) single nucleotide variant Mucolipidosis type IV [RCV001394203] Chr19:7527548 [GRCh38]
Chr19:7592434 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_7527018)_(7624057_?)dup duplication Hereditary spastic paraplegia 39 [RCV003105488]|not provided [RCV003105489] Chr19:7527018..7624057 [GRCh37]
Chr19:19p13.2		 uncertain significance|no classifications from unflagged records
NM_020533.3(MCOLN1):c.1410G>T (p.Gly470=) single nucleotide variant Mucolipidosis type IV [RCV003107208] Chr19:7530336 [GRCh38]
Chr19:7595222 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1397C>T (p.Ser466Leu) single nucleotide variant Mucolipidosis type IV [RCV002226821] Chr19:7530323 [GRCh38]
Chr19:7595209 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.278del (p.Phe93fs) deletion Mucolipidosis type IV [RCV001783636] Chr19:7526478 [GRCh38]
Chr19:7591364 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1701C>A (p.Cys567Ter) single nucleotide variant not specified [RCV001733403] Chr19:7533648 [GRCh38]
Chr19:7598534 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.17G>T (p.Gly6Val) single nucleotide variant not provided [RCV001760927] Chr19:7522767 [GRCh38]
Chr19:7587653 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1208G>A (p.Arg403His) single nucleotide variant Mucolipidosis type IV [RCV001733709] Chr19:7529174 [GRCh38]
Chr19:7594060 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1330T>C (p.Trp444Arg) single nucleotide variant not provided [RCV001815849] Chr19:7529683 [GRCh38]
Chr19:7594569 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1016del (p.Gly339fs) deletion Abnormality of the nervous system [RCV001814447] Chr19:7528849 [GRCh38]
Chr19:7593735 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1538del (p.Phe513fs) deletion not provided [RCV001822150] Chr19:7530463 [GRCh38]
Chr19:7595349 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.95dup (p.Pro33fs) duplication Mucolipidosis type IV [RCV002007621] Chr19:7525020..7525021 [GRCh38]
Chr19:7589906..7589907 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.165del (p.Lys55fs) deletion Mucolipidosis type IV [RCV001928601] Chr19:7525094 [GRCh38]
Chr19:7589980 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.405+16C>T single nucleotide variant Mucolipidosis type IV [RCV001929501] Chr19:7526622 [GRCh38]
Chr19:7591508 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.231G>A (p.Thr77=) single nucleotide variant Mucolipidosis type IV [RCV001985321] Chr19:7525160 [GRCh38]
Chr19:7590046 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.1237-1G>A single nucleotide variant Mucolipidosis type IV [RCV002022065] Chr19:7529589 [GRCh38]
Chr19:7594475 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1120G>A (p.Gly374Ser) single nucleotide variant Inborn genetic diseases [RCV002440901]|not specified [RCV001844715] Chr19:7528956 [GRCh38]
Chr19:7593842 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1062G>T (p.Trp354Cys) single nucleotide variant Mucolipidosis type IV [RCV001872216] Chr19:7528898 [GRCh38]
Chr19:7593784 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.37G>A (p.Glu13Lys) single nucleotide variant Mucolipidosis type IV [RCV001927980] Chr19:7524966 [GRCh38]
Chr19:7589852 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1225C>G (p.His409Asp) single nucleotide variant Mucolipidosis type IV [RCV001969230] Chr19:7529191 [GRCh38]
Chr19:7594077 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.601C>T (p.Pro201Ser) single nucleotide variant Mucolipidosis type IV [RCV001983166] Chr19:7527549 [GRCh38]
Chr19:7592435 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.507C>G (p.Tyr169Ter) single nucleotide variant Mucolipidosis type IV [RCV001963290] Chr19:7526862 [GRCh38]
Chr19:7591748 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.654C>A (p.Tyr218Ter) single nucleotide variant Mucolipidosis type IV [RCV002037683] Chr19:7527602 [GRCh38]
Chr19:7592488 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.90G>A (p.Pro30=) single nucleotide variant Mucolipidosis type IV [RCV001951869] Chr19:7525019 [GRCh38]
Chr19:7589905 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.844C>T (p.Gln282Ter) single nucleotide variant Mucolipidosis type IV [RCV001962958] Chr19:7528224 [GRCh38]
Chr19:7593110 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.665C>T (p.Thr222Met) single nucleotide variant Mucolipidosis type IV [RCV001924079] Chr19:7527613 [GRCh38]
Chr19:7592499 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1690C>G (p.Leu564Val) single nucleotide variant Mucolipidosis type IV [RCV001982071] Chr19:7533637 [GRCh38]
Chr19:7598523 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.281G>A (p.Arg94Gln) single nucleotide variant Mucolipidosis type IV [RCV002047417] Chr19:7526482 [GRCh38]
Chr19:7591368 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1576-7_1576-6delinsAT indel Mucolipidosis type IV [RCV002030432] Chr19:7533516..7533517 [GRCh38]
Chr19:7598402..7598403 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.406-1_417del deletion Mucolipidosis type IV [RCV001959318] Chr19:7526760..7526772 [GRCh38]
Chr19:7591646..7591658 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1134+5G>A single nucleotide variant Mucolipidosis type IV [RCV001932523]|not specified [RCV003230705] Chr19:7528975 [GRCh38]
Chr19:7593861 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.948dup (p.Ala317fs) duplication Mucolipidosis type IV [RCV001875299] Chr19:7528666..7528667 [GRCh38]
Chr19:7593552..7593553 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.504del (p.Tyr169fs) deletion Mucolipidosis type IV [RCV001994819] Chr19:7526858 [GRCh38]
Chr19:7591744 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.405+2T>C single nucleotide variant Mucolipidosis type IV [RCV001993694] Chr19:7526608 [GRCh38]
Chr19:7591494 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.1108A>G (p.Ile370Val) single nucleotide variant Mucolipidosis type IV [RCV001953177] Chr19:7528944 [GRCh38]
Chr19:7593830 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.66T>G (p.Tyr22Ter) single nucleotide variant Mucolipidosis type IV [RCV001939774] Chr19:7524995 [GRCh38]
Chr19:7589881 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.419del (p.Pro140fs) deletion Mucolipidosis type IV [RCV001880821] Chr19:7526773 [GRCh38]
Chr19:7591659 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.706C>T (p.Arg236Trp) single nucleotide variant Inborn genetic diseases [RCV004988957]|Mucolipidosis type IV [RCV001982164] Chr19:7527889 [GRCh38]
Chr19:7592775 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1100C>T (p.Ser367Leu) single nucleotide variant Mucolipidosis type IV [RCV001938893] Chr19:7528936 [GRCh38]
Chr19:7593822 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1627C>T (p.Gln543Ter) single nucleotide variant Mucolipidosis type IV [RCV001939516]|Mucolipidosis type IV [RCV005016942] Chr19:7533574 [GRCh38]
Chr19:7598460 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.280C>A (p.Arg94=) single nucleotide variant Mucolipidosis type IV [RCV001875734] Chr19:7526481 [GRCh38]
Chr19:7591367 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.367G>A (p.Glu123Lys) single nucleotide variant Inborn genetic diseases [RCV002552858]|Mucolipidosis type IV [RCV001924516] Chr19:7526568 [GRCh38]
Chr19:7591454 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.137A>G (p.Lys46Arg) single nucleotide variant Inborn genetic diseases [RCV002561363]|Mucolipidosis type IV [RCV001957542] Chr19:7525066 [GRCh38]
Chr19:7589952 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.230del (p.Thr77fs) deletion Mucolipidosis type IV [RCV002035280] Chr19:7525159 [GRCh38]
Chr19:7590045 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_7587627)_(7587677_?)del deletion Mucolipidosis type IV [RCV001951263] Chr19:7587627..7587677 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.406-17C>G single nucleotide variant Mucolipidosis type IV [RCV001977727] Chr19:7526744 [GRCh38]
Chr19:7591630 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.32-1G>C single nucleotide variant Mucolipidosis type IV [RCV001995040] Chr19:7524960 [GRCh38]
Chr19:7589846 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.519C>G (p.Gly173=) single nucleotide variant Mucolipidosis type IV [RCV002185437] Chr19:7526874 [GRCh38]
Chr19:7591760 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.183C>G (p.Arg61=) single nucleotide variant Mucolipidosis type IV [RCV002187934] Chr19:7525112 [GRCh38]
Chr19:7589998 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1264C>T (p.Leu422=) single nucleotide variant Mucolipidosis type IV [RCV002147536] Chr19:7529617 [GRCh38]
Chr19:7594503 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-6C>T single nucleotide variant Mucolipidosis type IV [RCV002188210] Chr19:7533517 [GRCh38]
Chr19:7598403 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1623C>T (p.Ile541=) single nucleotide variant Mucolipidosis type IV [RCV002165761] Chr19:7533570 [GRCh38]
Chr19:7598456 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.984+14G>A single nucleotide variant Mucolipidosis type IV [RCV002086944]|not provided [RCV004704671] Chr19:7528717 [GRCh38]
Chr19:7593603 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1135-18C>T single nucleotide variant Mucolipidosis type IV [RCV002189843] Chr19:7529083 [GRCh38]
Chr19:7593969 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.406-4A>G single nucleotide variant Mucolipidosis type IV [RCV002148092] Chr19:7526757 [GRCh38]
Chr19:7591643 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.858C>T (p.His286=) single nucleotide variant Mucolipidosis type IV [RCV002191238] Chr19:7528238 [GRCh38]
Chr19:7593124 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1116G>A (p.Lys372=) single nucleotide variant Mucolipidosis type IV [RCV002206344] Chr19:7528952 [GRCh38]
Chr19:7593838 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.364C>T (p.Arg122Trp) single nucleotide variant Mucolipidosis type IV [RCV002226926] Chr19:7526565 [GRCh38]
Chr19:7591451 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1659C>T (p.Phe553=) single nucleotide variant Mucolipidosis type IV [RCV002072583] Chr19:7533606 [GRCh38]
Chr19:7598492 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.81G>T (p.Gly27=) single nucleotide variant Mucolipidosis type IV [RCV002147589] Chr19:7525010 [GRCh38]
Chr19:7589896 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1237-10C>T single nucleotide variant Mucolipidosis type IV [RCV002146190] Chr19:7529580 [GRCh38]
Chr19:7594466 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1575+7C>A single nucleotide variant Mucolipidosis type IV [RCV002107856] Chr19:7530508 [GRCh38]
Chr19:7595394 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1359+8T>G single nucleotide variant Mucolipidosis type IV [RCV002074947] Chr19:7529720 [GRCh38]
Chr19:7594606 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+23_406-61del deletion Mucolipidosis type IV [RCV002169633] Chr19:7526604..7526675 [GRCh38]
Chr19:7591490..7591561 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.711G>C (p.Leu237=) single nucleotide variant Mucolipidosis type IV [RCV002208505] Chr19:7527894 [GRCh38]
Chr19:7592780 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.573C>T (p.Asp191=) single nucleotide variant Mucolipidosis type IV [RCV002080935] Chr19:7527521 [GRCh38]
Chr19:7592407 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.18T>G (p.Gly6=) single nucleotide variant Mucolipidosis type IV [RCV002149054] Chr19:7522768 [GRCh38]
Chr19:7587654 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.999C>T (p.Phe333=) single nucleotide variant Mucolipidosis type IV [RCV002211689] Chr19:7528835 [GRCh38]
Chr19:7593721 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1213C>T (p.Leu405=) single nucleotide variant Mucolipidosis type IV [RCV002146295] Chr19:7529179 [GRCh38]
Chr19:7594065 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.777+12del deletion Mucolipidosis type IV [RCV002129806] Chr19:7527967 [GRCh38]
Chr19:7592853 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.63G>T (p.Gly21=) single nucleotide variant Mucolipidosis type IV [RCV002213883] Chr19:7524992 [GRCh38]
Chr19:7589878 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.9C>T (p.Ala3=) single nucleotide variant Mucolipidosis type IV [RCV002185511] Chr19:7522759 [GRCh38]
Chr19:7587645 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1360-9C>G single nucleotide variant Mucolipidosis type IV [RCV002071694] Chr19:7530277 [GRCh38]
Chr19:7595163 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.48G>C (p.Leu16=) single nucleotide variant Mucolipidosis type IV [RCV002174111] Chr19:7524977 [GRCh38]
Chr19:7589863 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1575+8G>C single nucleotide variant Mucolipidosis type IV [RCV002195765] Chr19:7530509 [GRCh38]
Chr19:7595395 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.627C>A (p.Leu209=) single nucleotide variant Mucolipidosis type IV [RCV002193132] Chr19:7527575 [GRCh38]
Chr19:7592461 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.330G>C (p.Ser110=) single nucleotide variant Mucolipidosis type IV [RCV002166798] Chr19:7526531 [GRCh38]
Chr19:7591417 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1569C>G (p.Thr523=) single nucleotide variant Mucolipidosis type IV [RCV002132987] Chr19:7530495 [GRCh38]
Chr19:7595381 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.705C>T (p.Phe235=) single nucleotide variant Mucolipidosis type IV [RCV002071070] Chr19:7527888 [GRCh38]
Chr19:7592774 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.252G>T (p.Gly84=) single nucleotide variant Mucolipidosis type IV [RCV002214019] Chr19:7526453 [GRCh38]
Chr19:7591339 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.31+9G>A single nucleotide variant Mucolipidosis type IV [RCV002079041] Chr19:7522790 [GRCh38]
Chr19:7587676 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.406-10C>T single nucleotide variant Mucolipidosis type IV [RCV002077536] Chr19:7526751 [GRCh38]
Chr19:7591637 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1422T>C (p.Phe474=) single nucleotide variant Mucolipidosis type IV [RCV002149764] Chr19:7530348 [GRCh38]
Chr19:7595234 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1026C>T (p.Ile342=) single nucleotide variant Mucolipidosis type IV [RCV002151880] Chr19:7528862 [GRCh38]
Chr19:7593748 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-18C>T single nucleotide variant Mucolipidosis type IV [RCV002196754] Chr19:7533505 [GRCh38]
Chr19:7598391 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1425G>C (p.Val475=) single nucleotide variant Mucolipidosis type IV [RCV002093343] Chr19:7530351 [GRCh38]
Chr19:7595237 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1242C>T (p.Leu414=) single nucleotide variant Mucolipidosis type IV [RCV002114934] Chr19:7529595 [GRCh38]
Chr19:7594481 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-15A>T single nucleotide variant Mucolipidosis type IV [RCV002096373] Chr19:7528143 [GRCh38]
Chr19:7593029 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1269C>T (p.Pro423=) single nucleotide variant Mucolipidosis type IV [RCV002178898] Chr19:7529622 [GRCh38]
Chr19:7594508 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.681-15G>A single nucleotide variant Mucolipidosis type IV [RCV002218641] Chr19:7527849 [GRCh38]
Chr19:7592735 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.373C>T (p.Leu125=) single nucleotide variant Mucolipidosis type IV [RCV002098322] Chr19:7526574 [GRCh38]
Chr19:7591460 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.633C>G (p.Leu211=) single nucleotide variant Mucolipidosis type IV [RCV002098459] Chr19:7527581 [GRCh38]
Chr19:7592467 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1237-19T>C single nucleotide variant Mucolipidosis type IV [RCV002160581] Chr19:7529571 [GRCh38]
Chr19:7594457 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.768C>T (p.Phe256=) single nucleotide variant Mucolipidosis type IV [RCV002182066] Chr19:7527951 [GRCh38]
Chr19:7592837 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1143G>A (p.Ala381=) single nucleotide variant Mucolipidosis type IV [RCV002199456] Chr19:7529109 [GRCh38]
Chr19:7593995 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1638C>T (p.Asp546=) single nucleotide variant Mucolipidosis type IV [RCV002103826] Chr19:7533585 [GRCh38]
Chr19:7598471 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.975G>C (p.Leu325=) single nucleotide variant Mucolipidosis type IV [RCV002197691] Chr19:7528694 [GRCh38]
Chr19:7593580 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.120C>T (p.Asp40=) single nucleotide variant Mucolipidosis type IV [RCV002177194] Chr19:7525049 [GRCh38]
Chr19:7589935 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.571+16G>A single nucleotide variant Mucolipidosis type IV [RCV002083537] Chr19:7526942 [GRCh38]
Chr19:7591828 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.465C>T (p.Asp155=) single nucleotide variant Mucolipidosis type IV [RCV002140038] Chr19:7526820 [GRCh38]
Chr19:7591706 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.93C>T (p.Ala31=) single nucleotide variant Mucolipidosis type IV [RCV002162355] Chr19:7525022 [GRCh38]
Chr19:7589908 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1692C>T (p.Leu564=) single nucleotide variant Mucolipidosis type IV [RCV002183847] Chr19:7533639 [GRCh38]
Chr19:7598525 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.615C>T (p.Pro205=) single nucleotide variant Mucolipidosis type IV [RCV002082322] Chr19:7527563 [GRCh38]
Chr19:7592449 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.753G>C (p.Pro251=) single nucleotide variant Mucolipidosis type IV [RCV002164629] Chr19:7527936 [GRCh38]
Chr19:7592822 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.897C>G (p.Leu299=) single nucleotide variant Mucolipidosis type IV [RCV002181195] Chr19:7528616 [GRCh38]
Chr19:7593502 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1706+7G>T single nucleotide variant Mucolipidosis type IV [RCV002120672] Chr19:7533660 [GRCh38]
Chr19:7598546 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+31_406-71del deletion Mucolipidosis type IV [RCV002101431] Chr19:7526614..7526667 [GRCh38]
Chr19:7591500..7591553 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-4C>G single nucleotide variant Mucolipidosis type IV [RCV002139200] Chr19:7533519 [GRCh38]
Chr19:7598405 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.957A>G (p.Ser319=) single nucleotide variant Mucolipidosis type IV [RCV002220585] Chr19:7528676 [GRCh38]
Chr19:7593562 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.213C>G (p.Val71=) single nucleotide variant Mucolipidosis type IV [RCV002157738] Chr19:7525142 [GRCh38]
Chr19:7590028 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1632C>T (p.Cys544=) single nucleotide variant Mucolipidosis type IV [RCV002179349] Chr19:7533579 [GRCh38]
Chr19:7598465 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1239C>A (p.Ile413=) single nucleotide variant Mucolipidosis type IV [RCV002121671] Chr19:7529592 [GRCh38]
Chr19:7594478 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1569C>T (p.Thr523=) single nucleotide variant Mucolipidosis type IV [RCV002101938] Chr19:7530495 [GRCh38]
Chr19:7595381 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1677G>C (p.Ser559=) single nucleotide variant Mucolipidosis type IV [RCV002123183] Chr19:7533624 [GRCh38]
Chr19:7598510 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.861C>T (p.Pro287=) single nucleotide variant Mucolipidosis type IV [RCV002183604] Chr19:7528241 [GRCh38]
Chr19:7593127 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1203G>C (p.Val401=) single nucleotide variant Mucolipidosis type IV [RCV002162466] Chr19:7529169 [GRCh38]
Chr19:7594055 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.255C>T (p.Leu85=) single nucleotide variant Mucolipidosis type IV [RCV002136598] Chr19:7526456 [GRCh38]
Chr19:7591342 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1668G>C (p.Gly556=) single nucleotide variant Mucolipidosis type IV [RCV002101338] Chr19:7533615 [GRCh38]
Chr19:7598501 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.978G>A (p.Leu326=) single nucleotide variant Mucolipidosis type IV [RCV002159304] Chr19:7528697 [GRCh38]
Chr19:7593583 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1135-8A>G single nucleotide variant Mucolipidosis type IV [RCV002180601] Chr19:7529093 [GRCh38]
Chr19:7593979 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_7586521)_(8670595_?)dup duplication Mucolipidosis type IV [RCV003109714] Chr19:7586521..8670595 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_6361586)_(8212364_?)del deletion Mucolipidosis type IV [RCV003109715] Chr19:6361586..8212364 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_020533.3(MCOLN1):c.98C>T (p.Pro33Leu) single nucleotide variant not provided [RCV003109981] Chr19:7525027 [GRCh38]
Chr19:7589913 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.877+7C>T single nucleotide variant Mucolipidosis type IV [RCV003121514] Chr19:7528264 [GRCh38]
Chr19:7593150 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.877+4A>G single nucleotide variant Mucolipidosis type IV [RCV004792015] Chr19:7528261 [GRCh38]
Chr19:7593147 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.571+17A>T single nucleotide variant not specified [RCV002266516] Chr19:7526943 [GRCh38]
Chr19:7591829 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.619G>A (p.Asp207Asn) single nucleotide variant Inborn genetic diseases [RCV002363734]|not provided [RCV002261599] Chr19:7527567 [GRCh38]
Chr19:7592453 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.622G>A (p.Asp208Asn) single nucleotide variant Inborn genetic diseases [RCV002366568] Chr19:7527570 [GRCh38]
Chr19:7592456 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.804T>C (p.Ser268=) single nucleotide variant Mucolipidosis type IV [RCV002902975] Chr19:7528184 [GRCh38]
Chr19:7593070 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1363C>T (p.Arg455Cys) single nucleotide variant Mucolipidosis type IV [RCV004584174] Chr19:7530289 [GRCh38]
Chr19:7595175 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.117del (p.Asp40fs) deletion Mucolipidosis type IV [RCV002306970] Chr19:7525045 [GRCh38]
Chr19:7589931 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1230delinsTCAGG (p.Tyr411fs) indel Mucolipidosis type IV [RCV002309031] Chr19:7529196 [GRCh38]
Chr19:7594082 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.614C>A (p.Pro205His) single nucleotide variant Inborn genetic diseases [RCV002360418]|Mucolipidosis type IV [RCV003103270] Chr19:7527562 [GRCh38]
Chr19:7592448 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1039C>T (p.Arg347Trp) single nucleotide variant Inborn genetic diseases [RCV002397097]|Mucolipidosis type IV [RCV005097540] Chr19:7528875 [GRCh38]
Chr19:7593761 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.520del (p.His174fs) deletion Mucolipidosis type IV [RCV002308389] Chr19:7526874 [GRCh38]
Chr19:7591760 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.907G>A (p.Val303Met) single nucleotide variant Inborn genetic diseases [RCV002449973]|Mucolipidosis type IV [RCV003100093] Chr19:7528626 [GRCh38]
Chr19:7593512 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1605C>T (p.Ser535=) single nucleotide variant Inborn genetic diseases [RCV002392669] Chr19:7533552 [GRCh38]
Chr19:7598438 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.608del (p.Pro203fs) deletion Mucolipidosis type IV [RCV002306886] Chr19:7527555 [GRCh38]
Chr19:7592441 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.63del (p.Tyr22fs) deletion MCOLN1-related disorder [RCV003903669]|Mucolipidosis type IV [RCV002309586] Chr19:7524990 [GRCh38]
Chr19:7589876 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.679A>T (p.Lys227Ter) single nucleotide variant Mucolipidosis type IV [RCV002307980] Chr19:7527627 [GRCh38]
Chr19:7592513 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.499del (p.Gln167fs) deletion Mucolipidosis type IV [RCV002310128] Chr19:7526853 [GRCh38]
Chr19:7591739 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.865_866insACTG (p.Val289fs) insertion Mucolipidosis type IV [RCV002307026] Chr19:7528243..7528244 [GRCh38]
Chr19:7593129..7593130 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.11dup (p.Ala5fs) duplication Mucolipidosis type IV [RCV002307065] Chr19:7522757..7522758 [GRCh38]
Chr19:7587643..7587644 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.141C>G (p.Tyr47Ter) single nucleotide variant Mucolipidosis type IV [RCV002306598] Chr19:7525070 [GRCh38]
Chr19:7589956 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.838C>T (p.His280Tyr) single nucleotide variant Inborn genetic diseases [RCV004983173]|Mucolipidosis type IV [RCV002903276]|not provided [RCV004725410] Chr19:7528218 [GRCh38]
Chr19:7593104 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.1728G>T (p.Ser576=) single nucleotide variant Mucolipidosis type IV [RCV002815634] Chr19:7533780 [GRCh38]
Chr19:7598666 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.902T>C (p.Phe301Ser) single nucleotide variant Mucolipidosis type IV [RCV002861338] Chr19:7528621 [GRCh38]
Chr19:7593507 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.406-3C>T single nucleotide variant Inborn genetic diseases [RCV002971361]|Mucolipidosis type IV [RCV002971362] Chr19:7526758 [GRCh38]
Chr19:7591644 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1375A>T (p.Met459Leu) single nucleotide variant Inborn genetic diseases [RCV002883108] Chr19:7530301 [GRCh38]
Chr19:7595187 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.996G>T (p.Gly332=) single nucleotide variant Mucolipidosis type IV [RCV002726523] Chr19:7528832 [GRCh38]
Chr19:7593718 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.198G>T (p.Leu66=) single nucleotide variant Mucolipidosis type IV [RCV002756180] Chr19:7525127 [GRCh38]
Chr19:7590013 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.477T>C (p.Asn159=) single nucleotide variant Mucolipidosis type IV [RCV002861799] Chr19:7526832 [GRCh38]
Chr19:7591718 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1417_1418del (p.Met473fs) deletion Mucolipidosis type IV [RCV003017136] Chr19:7530343..7530344 [GRCh38]
Chr19:7595229..7595230 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.40C>A (p.Arg14=) single nucleotide variant Mucolipidosis type IV [RCV003076895] Chr19:7524969 [GRCh38]
Chr19:7589855 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.196C>G (p.Leu66Val) single nucleotide variant Mucolipidosis type IV [RCV002975602] Chr19:7525125 [GRCh38]
Chr19:7590011 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.572-9T>C single nucleotide variant Mucolipidosis type IV [RCV002975315] Chr19:7527511 [GRCh38]
Chr19:7592397 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1512C>G (p.Leu504=) single nucleotide variant Mucolipidosis type IV [RCV002863591] Chr19:7530438 [GRCh38]
Chr19:7595324 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.909G>C (p.Val303=) single nucleotide variant Mucolipidosis type IV [RCV002903390] Chr19:7528628 [GRCh38]
Chr19:7593514 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.437G>A (p.Arg146Gln) single nucleotide variant Inborn genetic diseases [RCV003074093]|Mucolipidosis type IV [RCV003060512] Chr19:7526792 [GRCh38]
Chr19:7591678 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.45T>G (p.Leu15=) single nucleotide variant Mucolipidosis type IV [RCV003015666] Chr19:7524974 [GRCh38]
Chr19:7589860 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1173C>T (p.Gly391=) single nucleotide variant Mucolipidosis type IV [RCV002726169] Chr19:7529139 [GRCh38]
Chr19:7594025 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.318G>C (p.Leu106=) single nucleotide variant Mucolipidosis type IV [RCV002815705] Chr19:7526519 [GRCh38]
Chr19:7591405 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1700G>A (p.Cys567Tyr) single nucleotide variant Mucolipidosis type IV [RCV003076800] Chr19:7533647 [GRCh38]
Chr19:7598533 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1135-4G>T single nucleotide variant Mucolipidosis type IV [RCV002842528] Chr19:7529097 [GRCh38]
Chr19:7593983 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1208_1218del (p.Arg403fs) deletion Mucolipidosis type IV [RCV002947310] Chr19:7529172..7529182 [GRCh38]
Chr19:7594058..7594068 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1651G>C (p.Gly551Arg) single nucleotide variant Inborn genetic diseases [RCV002859625] Chr19:7533598 [GRCh38]
Chr19:7598484 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.980A>G (p.Gln327Arg) single nucleotide variant Mucolipidosis type IV [RCV002996249] Chr19:7528699 [GRCh38]
Chr19:7593585 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.54C>T (p.Pro18=) single nucleotide variant Mucolipidosis type IV [RCV002681614] Chr19:7524983 [GRCh38]
Chr19:7589869 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-4C>A single nucleotide variant Mucolipidosis type IV [RCV003013434] Chr19:7533519 [GRCh38]
Chr19:7598405 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.65A>G (p.Tyr22Cys) single nucleotide variant Mucolipidosis type IV [RCV003077408] Chr19:7524994 [GRCh38]
Chr19:7589880 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1137C>T (p.Asn379=) single nucleotide variant Mucolipidosis type IV [RCV002662451] Chr19:7529103 [GRCh38]
Chr19:7593989 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.248T>G (p.Phe83Cys) single nucleotide variant Mucolipidosis type IV [RCV003022058] Chr19:7526449 [GRCh38]
Chr19:7591335 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1569del (p.Ile524fs) deletion Mucolipidosis type IV [RCV002825468] Chr19:7530494 [GRCh38]
Chr19:7595380 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1713C>T (p.Pro571=) single nucleotide variant Mucolipidosis type IV [RCV003080340] Chr19:7533765 [GRCh38]
Chr19:7598651 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.297C>A (p.Ile99=) single nucleotide variant Mucolipidosis type IV [RCV002705811] Chr19:7526498 [GRCh38]
Chr19:7591384 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.406-5C>T single nucleotide variant Mucolipidosis type IV [RCV003019553] Chr19:7526756 [GRCh38]
Chr19:7591642 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.762T>G (p.Tyr254Ter) single nucleotide variant Mucolipidosis type IV [RCV003037718] Chr19:7527945 [GRCh38]
Chr19:7592831 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1134+16A>G single nucleotide variant Mucolipidosis type IV [RCV003052878] Chr19:7528986 [GRCh38]
Chr19:7593872 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.682C>T (p.Leu228=) single nucleotide variant Mucolipidosis type IV [RCV003080693] Chr19:7527865 [GRCh38]
Chr19:7592751 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1678G>T (p.Ala560Ser) single nucleotide variant Mucolipidosis type IV [RCV002695780] Chr19:7533625 [GRCh38]
Chr19:7598511 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1360-1G>T single nucleotide variant Mucolipidosis type IV [RCV002913936] Chr19:7530285 [GRCh38]
Chr19:7595171 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.495C>G (p.Leu165=) single nucleotide variant Mucolipidosis type IV [RCV002761468] Chr19:7526850 [GRCh38]
Chr19:7591736 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.10:g.7521739_7528168del deletion Mucolipidosis type IV [RCV002510381] Chr19:7521738..7528167 [GRCh38]
Chr19:7586624..7593053 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.195G>A (p.Lys65=) single nucleotide variant Mucolipidosis type IV [RCV002912586] Chr19:7525124 [GRCh38]
Chr19:7590010 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.352G>A (p.Ala118Thr) single nucleotide variant Mucolipidosis type IV [RCV002795584] Chr19:7526553 [GRCh38]
Chr19:7591439 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.32-7C>T single nucleotide variant Mucolipidosis type IV [RCV002824273] Chr19:7524954 [GRCh38]
Chr19:7589840 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.809G>A (p.Arg270Gln) single nucleotide variant Mucolipidosis type IV [RCV002637824] Chr19:7528189 [GRCh38]
Chr19:7593075 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1701C>T (p.Cys567=) single nucleotide variant Mucolipidosis type IV [RCV003041826] Chr19:7533648 [GRCh38]
Chr19:7598534 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.598C>T (p.Arg200Trp) single nucleotide variant Mucolipidosis type IV [RCV002959089] Chr19:7527546 [GRCh38]
Chr19:7592432 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.528C>T (p.Asp176=) single nucleotide variant Mucolipidosis type IV [RCV003026032] Chr19:7526883 [GRCh38]
Chr19:7591769 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.744T>C (p.Asn248=) single nucleotide variant Mucolipidosis type IV [RCV002875832] Chr19:7527927 [GRCh38]
Chr19:7592813 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.660C>T (p.Asn220=) single nucleotide variant Mucolipidosis type IV [RCV002805678] Chr19:7527608 [GRCh38]
Chr19:7592494 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1134+4C>T single nucleotide variant Mucolipidosis type IV [RCV003056690] Chr19:7528974 [GRCh38]
Chr19:7593860 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1576-6C>A single nucleotide variant Mucolipidosis type IV [RCV003083132] Chr19:7533517 [GRCh38]
Chr19:7598403 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.810G>T (p.Arg270=) single nucleotide variant Mucolipidosis type IV [RCV002890376] Chr19:7528190 [GRCh38]
Chr19:7593076 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.280C>T (p.Arg94Trp) single nucleotide variant Inborn genetic diseases [RCV002641645] Chr19:7526481 [GRCh38]
Chr19:7591367 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.444G>T (p.Ala148=) single nucleotide variant Mucolipidosis type IV [RCV002594777] Chr19:7526799 [GRCh38]
Chr19:7591685 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.737T>A (p.Ile246Asn) single nucleotide variant Mucolipidosis type IV [RCV002642548] Chr19:7527920 [GRCh38]
Chr19:7592806 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.957A>T (p.Ser319=) single nucleotide variant Mucolipidosis type IV [RCV002828318] Chr19:7528676 [GRCh38]
Chr19:7593562 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.207A>G (p.Gln69=) single nucleotide variant Mucolipidosis type IV [RCV002701501] Chr19:7525136 [GRCh38]
Chr19:7590022 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1644C>T (p.Pro548=) single nucleotide variant Mucolipidosis type IV [RCV002851466] Chr19:7533591 [GRCh38]
Chr19:7598477 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.871C>T (p.Gln291Ter) single nucleotide variant Mucolipidosis type IV [RCV002624890] Chr19:7528251 [GRCh38]
Chr19:7593137 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.877G>C (p.Gly293Arg) single nucleotide variant Mucolipidosis type IV [RCV002852436] Chr19:7528257 [GRCh38]
Chr19:7593143 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1101G>A (p.Ser367=) single nucleotide variant Mucolipidosis type IV [RCV002918754] Chr19:7528937 [GRCh38]
Chr19:7593823 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.985-9C>T single nucleotide variant Mucolipidosis type IV [RCV002801158] Chr19:7528812 [GRCh38]
Chr19:7593698 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1005G>A (p.Trp335Ter) single nucleotide variant Mucolipidosis type IV [RCV002791902]|Mucolipidosis type IV [RCV005027972] Chr19:7528841 [GRCh38]
Chr19:7593727 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_020533.3(MCOLN1):c.777+20C>T single nucleotide variant Mucolipidosis type IV [RCV003089732] Chr19:7527980 [GRCh38]
Chr19:7592866 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.154C>G (p.Pro52Ala) single nucleotide variant Mucolipidosis type IV [RCV002938397] Chr19:7525083 [GRCh38]
Chr19:7589969 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.750C>T (p.Ile250=) single nucleotide variant Mucolipidosis type IV [RCV002716152] Chr19:7527933 [GRCh38]
Chr19:7592819 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1126G>A (p.Glu376Lys) single nucleotide variant Mucolipidosis type IV [RCV002629914] Chr19:7528962 [GRCh38]
Chr19:7593848 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.984+6G>C single nucleotide variant Mucolipidosis type IV [RCV002963413]|not provided [RCV004695276] Chr19:7528709 [GRCh38]
Chr19:7593595 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.681-7T>G single nucleotide variant Mucolipidosis type IV [RCV002628486] Chr19:7527857 [GRCh38]
Chr19:7592743 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.32-9T>C single nucleotide variant Mucolipidosis type IV [RCV003044022] Chr19:7524952 [GRCh38]
Chr19:7589838 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.327C>G (p.Tyr109Ter) single nucleotide variant Mucolipidosis type IV [RCV003029265] Chr19:7526528 [GRCh38]
Chr19:7591414 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1266G>A (p.Leu422=) single nucleotide variant Mucolipidosis type IV [RCV002898969] Chr19:7529619 [GRCh38]
Chr19:7594505 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1674C>T (p.Gly558=) single nucleotide variant Mucolipidosis type IV [RCV002963103] Chr19:7533621 [GRCh38]
Chr19:7598507 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.21G>T (p.Pro7=) single nucleotide variant Mucolipidosis type IV [RCV002577855] Chr19:7522771 [GRCh38]
Chr19:7587657 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.893G>A (p.Arg298Gln) single nucleotide variant Inborn genetic diseases [RCV002936472] Chr19:7528612 [GRCh38]
Chr19:7593498 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.717C>G (p.Thr239=) single nucleotide variant Mucolipidosis type IV [RCV003048394] Chr19:7527900 [GRCh38]
Chr19:7592786 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.77C>T (p.Ala26Val) single nucleotide variant Inborn genetic diseases [RCV002647695]|Mucolipidosis type IV [RCV002628718] Chr19:7525006 [GRCh38]
Chr19:7589892 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.1014G>T (p.Arg338=) single nucleotide variant Mucolipidosis type IV [RCV002631246] Chr19:7528850 [GRCh38]
Chr19:7593736 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.424G>A (p.Val142Met) single nucleotide variant Inborn genetic diseases [RCV002703020] Chr19:7526779 [GRCh38]
Chr19:7591665 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1273G>A (p.Val425Ile) single nucleotide variant Mucolipidosis type IV [RCV002580675] Chr19:7529626 [GRCh38]
Chr19:7594512 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.780C>T (p.Ile260=) single nucleotide variant Mucolipidosis type IV [RCV003029854] Chr19:7528160 [GRCh38]
Chr19:7593046 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.598C>A (p.Arg200=) single nucleotide variant Mucolipidosis type IV [RCV003064771]|not provided [RCV004809893] Chr19:7527546 [GRCh38]
Chr19:7592432 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.271G>A (p.Val91Met) single nucleotide variant Mucolipidosis type IV [RCV003026587] Chr19:7526472 [GRCh38]
Chr19:7591358 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.100A>C (p.Thr34Pro) single nucleotide variant Inborn genetic diseases [RCV002673844] Chr19:7525029 [GRCh38]
Chr19:7589915 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1702G>A (p.Gly568Arg) single nucleotide variant Mucolipidosis type IV [RCV002581121] Chr19:7533649 [GRCh38]
Chr19:7598535 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1476C>G (p.Leu492=) single nucleotide variant Mucolipidosis type IV [RCV003028355] Chr19:7530402 [GRCh38]
Chr19:7595288 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.777+7C>A single nucleotide variant Mucolipidosis type IV [RCV002834328] Chr19:7527967 [GRCh38]
Chr19:7592853 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.31+10C>T single nucleotide variant Mucolipidosis type IV [RCV002939140] Chr19:7522791 [GRCh38]
Chr19:7587677 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.60C>G (p.Pro20=) single nucleotide variant Mucolipidosis type IV [RCV003091553] Chr19:7524989 [GRCh38]
Chr19:7589875 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.298G>A (p.Ala100Thr) single nucleotide variant Mucolipidosis type IV [RCV003066511] Chr19:7526499 [GRCh38]
Chr19:7591385 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1167C>T (p.Leu389=) single nucleotide variant Mucolipidosis type IV [RCV003032090] Chr19:7529133 [GRCh38]
Chr19:7594019 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.576C>T (p.Cys192=) single nucleotide variant Mucolipidosis type IV [RCV003052134] Chr19:7527524 [GRCh38]
Chr19:7592410 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.832C>T (p.Gln278Ter) single nucleotide variant Mucolipidosis type IV [RCV002654679] Chr19:7528212 [GRCh38]
Chr19:7593098 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1294G>A (p.Val432Met) single nucleotide variant Mucolipidosis type IV [RCV003092455] Chr19:7529647 [GRCh38]
Chr19:7594533 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.984+8T>G single nucleotide variant Mucolipidosis type IV [RCV002658378] Chr19:7528711 [GRCh38]
Chr19:7593597 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1150G>A (p.Asp384Asn) single nucleotide variant Mucolipidosis type IV [RCV003092479] Chr19:7529116 [GRCh38]
Chr19:7594002 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1576-17C>T single nucleotide variant Mucolipidosis type IV [RCV003069281] Chr19:7533506 [GRCh38]
Chr19:7598392 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+13_405+30dup duplication Mucolipidosis type IV [RCV003068250]|not provided [RCV004695289] Chr19:7526603..7526604 [GRCh38]
Chr19:7591489..7591490 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1309C>T (p.Leu437=) single nucleotide variant Mucolipidosis type IV [RCV002657892] Chr19:7529662 [GRCh38]
Chr19:7594548 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1018C>T (p.Arg340Trp) single nucleotide variant Mucolipidosis type IV [RCV003066671] Chr19:7528854 [GRCh38]
Chr19:7593740 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.457G>A (p.Gly153Arg) single nucleotide variant Mucolipidosis type IV [RCV003070081] Chr19:7526812 [GRCh38]
Chr19:7591698 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1360-14C>T single nucleotide variant Mucolipidosis type IV [RCV003067139] Chr19:7530272 [GRCh38]
Chr19:7595158 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.690T>C (p.Asn230=) single nucleotide variant Mucolipidosis type IV [RCV002653103] Chr19:7527873 [GRCh38]
Chr19:7592759 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1247C>T (p.Ala416Val) single nucleotide variant Inborn genetic diseases [RCV004072077]|Mucolipidosis type IV [RCV002654942] Chr19:7529600 [GRCh38]
Chr19:7594486 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.329C>T (p.Ser110Leu) single nucleotide variant Mucolipidosis type IV [RCV002655013]|not provided [RCV004593172] Chr19:7526530 [GRCh38]
Chr19:7591416 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1266G>T (p.Leu422=) single nucleotide variant Mucolipidosis type IV [RCV003073484] Chr19:7529619 [GRCh38]
Chr19:7594505 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1706+4C>T single nucleotide variant Mucolipidosis type IV [RCV003050788] Chr19:7533657 [GRCh38]
Chr19:7598543 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.984+13C>G single nucleotide variant Mucolipidosis type IV [RCV002603800] Chr19:7528716 [GRCh38]
Chr19:7593602 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1439T>G (p.Met480Arg) single nucleotide variant Mucolipidosis type IV [RCV002585799] Chr19:7530365 [GRCh38]
Chr19:7595251 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1479C>T (p.Phe493=) single nucleotide variant Mucolipidosis type IV [RCV002634554] Chr19:7530405 [GRCh38]
Chr19:7595291 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1364G>A (p.Arg455His) single nucleotide variant Inborn genetic diseases [RCV002652829] Chr19:7530290 [GRCh38]
Chr19:7595176 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(7591813_7592405)_(7592847_7593043)del deletion Mucolipidosis type IV [RCV003226835] Chr19:7592405..7592847 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.460G>T (p.Gly154Cys) single nucleotide variant Inborn genetic diseases [RCV003188055] Chr19:7526815 [GRCh38]
Chr19:7591701 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.965G>A (p.Arg322Gln) single nucleotide variant Inborn genetic diseases [RCV003205365] Chr19:7528684 [GRCh38]
Chr19:7593570 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1282T>A (p.Phe428Ile) single nucleotide variant Inborn genetic diseases [RCV003194106] Chr19:7529635 [GRCh38]
Chr19:7594521 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1498T>A (p.Ser500Thr) single nucleotide variant Inborn genetic diseases [RCV003194953] Chr19:7530424 [GRCh38]
Chr19:7595310 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.562G>T (p.Val188Leu) single nucleotide variant Inborn genetic diseases [RCV003191051] Chr19:7526917 [GRCh38]
Chr19:7591803 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.11C>A (p.Pro4Gln) single nucleotide variant Inborn genetic diseases [RCV003210066] Chr19:7522761 [GRCh38]
Chr19:7587647 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1002G>T (p.Met334Ile) single nucleotide variant Mucolipidosis type IV [RCV003142620] Chr19:7528838 [GRCh38]
Chr19:7593724 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1034G>A (p.Trp345Ter) single nucleotide variant Mucolipidosis type IV [RCV003147189] Chr19:7528870 [GRCh38]
Chr19:7593756 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1181C>T (p.Thr394Met) single nucleotide variant Inborn genetic diseases [RCV003350521] Chr19:7529147 [GRCh38]
Chr19:7594033 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.160G>A (p.Asp54Asn) single nucleotide variant Inborn genetic diseases [RCV003350774] Chr19:7525089 [GRCh38]
Chr19:7589975 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1259T>C (p.Val420Ala) single nucleotide variant Inborn genetic diseases [RCV003377460] Chr19:7529612 [GRCh38]
Chr19:7594498 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.29C>T (p.Ser10Leu) single nucleotide variant Inborn genetic diseases [RCV003349966] Chr19:7522779 [GRCh38]
Chr19:7587665 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1626A>C (p.Ala542=) single nucleotide variant Mucolipidosis type IV [RCV003505449] Chr19:7533573 [GRCh38]
Chr19:7598459 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1134+14A>G single nucleotide variant Mucolipidosis type IV [RCV003505460] Chr19:7528984 [GRCh38]
Chr19:7593870 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.432G>A (p.Leu144=) single nucleotide variant Mucolipidosis type IV [RCV003505743] Chr19:7526787 [GRCh38]
Chr19:7591673 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.984+17A>T single nucleotide variant Mucolipidosis type IV [RCV003505474] Chr19:7528720 [GRCh38]
Chr19:7593606 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1626A>G (p.Ala542=) single nucleotide variant Mucolipidosis type IV [RCV003505769] Chr19:7533573 [GRCh38]
Chr19:7598459 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+19G>A single nucleotide variant Mucolipidosis type IV [RCV003506320] Chr19:7526625 [GRCh38]
Chr19:7591511 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.32-7C>G single nucleotide variant Mucolipidosis type IV [RCV003505771] Chr19:7524954 [GRCh38]
Chr19:7589840 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.129T>C (p.Arg43=) single nucleotide variant Mucolipidosis type IV [RCV003505772] Chr19:7525058 [GRCh38]
Chr19:7589944 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1575+9C>T single nucleotide variant Mucolipidosis type IV [RCV003505801] Chr19:7530510 [GRCh38]
Chr19:7595396 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.680+19A>C single nucleotide variant Mucolipidosis type IV [RCV003873535] Chr19:7527647 [GRCh38]
Chr19:7592533 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.585G>T (p.Val195=) single nucleotide variant Mucolipidosis type IV [RCV003505523] Chr19:7527533 [GRCh38]
Chr19:7592419 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1446G>T (p.Ala482=) single nucleotide variant Mucolipidosis type IV [RCV003505814] Chr19:7530372 [GRCh38]
Chr19:7595258 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.31+13G>A single nucleotide variant Mucolipidosis type IV [RCV003505824] Chr19:7522794 [GRCh38]
Chr19:7587680 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1404C>T (p.Ile468=) single nucleotide variant Mucolipidosis type IV [RCV003504917] Chr19:7530330 [GRCh38]
Chr19:7595216 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-14T>G single nucleotide variant Mucolipidosis type IV [RCV003504955] Chr19:7528583 [GRCh38]
Chr19:7593469 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1215G>C (p.Leu405=) single nucleotide variant Mucolipidosis type IV [RCV003505553] Chr19:7529181 [GRCh38]
Chr19:7594067 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1359+15del deletion Mucolipidosis type IV [RCV003505843] Chr19:7529727 [GRCh38]
Chr19:7594613 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1036del (p.Glu346fs) deletion Mucolipidosis type IV [RCV003505845] Chr19:7528870 [GRCh38]
Chr19:7593756 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.877+10T>A single nucleotide variant Mucolipidosis type IV [RCV003504996] Chr19:7528267 [GRCh38]
Chr19:7593153 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1457G>A (p.Arg486His) single nucleotide variant Mucolipidosis type IV [RCV003505002] Chr19:7530383 [GRCh38]
Chr19:7595269 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-4A>G single nucleotide variant Mucolipidosis type IV [RCV003506163] Chr19:7528154 [GRCh38]
Chr19:7593040 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.459G>C (p.Gly153=) single nucleotide variant Mucolipidosis type IV [RCV003505020] Chr19:7526814 [GRCh38]
Chr19:7591700 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.32-5C>G single nucleotide variant Mucolipidosis type IV [RCV003505040] Chr19:7524956 [GRCh38]
Chr19:7589842 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1707-17C>T single nucleotide variant Mucolipidosis type IV [RCV003504896] Chr19:7533742 [GRCh38]
Chr19:7598628 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.681-12C>T single nucleotide variant Mucolipidosis type IV [RCV003505904] Chr19:7527852 [GRCh38]
Chr19:7592738 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1299T>C (p.Ala433=) single nucleotide variant Mucolipidosis type IV [RCV003506168] Chr19:7529652 [GRCh38]
Chr19:7594538 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1605_1606del (p.Ser535fs) deletion Mucolipidosis type IV [RCV003504730] Chr19:7533551..7533552 [GRCh38]
Chr19:7598437..7598438 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1073T>G (p.Leu358Arg) single nucleotide variant Mucolipidosis type IV [RCV003505924] Chr19:7528909 [GRCh38]
Chr19:7593795 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.777+19C>G single nucleotide variant Mucolipidosis type IV [RCV003504665] Chr19:7527979 [GRCh38]
Chr19:7592865 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-15G>A single nucleotide variant Mucolipidosis type IV [RCV003504749] Chr19:7533508 [GRCh38]
Chr19:7598394 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1706+15T>A single nucleotide variant Mucolipidosis type IV [RCV003505949] Chr19:7533668 [GRCh38]
Chr19:7598554 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.507del (p.Tyr170fs) deletion Mucolipidosis type IV [RCV003505955] Chr19:7526862 [GRCh38]
Chr19:7591748 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.360C>T (p.Tyr120=) single nucleotide variant Mucolipidosis type IV [RCV003506241] Chr19:7526561 [GRCh38]
Chr19:7591447 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.406-12del deletion Mucolipidosis type IV [RCV003504661] Chr19:7526749 [GRCh38]
Chr19:7591635 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1236+11C>T single nucleotide variant Mucolipidosis type IV [RCV003505980] Chr19:7529213 [GRCh38]
Chr19:7594099 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1732C>T (p.Leu578=) single nucleotide variant Mucolipidosis type IV [RCV003504871] Chr19:7533784 [GRCh38]
Chr19:7598670 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1134+20T>C single nucleotide variant Mucolipidosis type IV [RCV003504886] Chr19:7528990 [GRCh38]
Chr19:7593876 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1360-17C>G single nucleotide variant Mucolipidosis type IV [RCV003506013] Chr19:7530269 [GRCh38]
Chr19:7595155 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1306T>C (p.Tyr436His) single nucleotide variant Mucolipidosis type IV [RCV003506283] Chr19:7529659 [GRCh38]
Chr19:7594545 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1284C>T (p.Phe428=) single nucleotide variant Mucolipidosis type IV [RCV003504658] Chr19:7529637 [GRCh38]
Chr19:7594523 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1237-12G>C single nucleotide variant Mucolipidosis type IV [RCV003504837] Chr19:7529578 [GRCh38]
Chr19:7594464 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.572-5C>G single nucleotide variant Mucolipidosis type IV [RCV003505697] Chr19:7527515 [GRCh38]
Chr19:7592401 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.680+13C>T single nucleotide variant Mucolipidosis type IV [RCV003505698] Chr19:7527641 [GRCh38]
Chr19:7592527 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.571+14A>G single nucleotide variant Mucolipidosis type IV [RCV003505702] Chr19:7526940 [GRCh38]
Chr19:7591826 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.627C>T (p.Leu209=) single nucleotide variant Mucolipidosis type IV [RCV003505413] Chr19:7527575 [GRCh38]
Chr19:7592461 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1212C>A (p.Tyr404Ter) single nucleotide variant Mucolipidosis type IV [RCV003506146] Chr19:7529178 [GRCh38]
Chr19:7594064 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.426del (p.Ser143fs) deletion Mucolipidosis type IV [RCV003484212] Chr19:7526781 [GRCh38]
Chr19:7591667 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.*45C>A single nucleotide variant not provided [RCV003423272] Chr19:7533840 [GRCh38]
Chr19:7598726 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1236+20C>T single nucleotide variant Mucolipidosis type IV [RCV003831849] Chr19:7529222 [GRCh38]
Chr19:7594108 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.571+13G>A single nucleotide variant Mucolipidosis type IV [RCV003506451] Chr19:7526939 [GRCh38]
Chr19:7591825 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.1706+10C>T single nucleotide variant Mucolipidosis type IV [RCV003877411] Chr19:7533663 [GRCh38]
Chr19:7598549 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.31+19C>T single nucleotide variant Mucolipidosis type IV [RCV003506683] Chr19:7522800 [GRCh38]
Chr19:7587686 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-20C>T single nucleotide variant Mucolipidosis type IV [RCV003876112] Chr19:7533503 [GRCh38]
Chr19:7598389 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-17C>T single nucleotide variant Mucolipidosis type IV [RCV003506417] Chr19:7528580 [GRCh38]
Chr19:7593466 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.681-16C>T single nucleotide variant Mucolipidosis type IV [RCV003506423] Chr19:7527848 [GRCh38]
Chr19:7592734 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1237-14C>G single nucleotide variant Mucolipidosis type IV [RCV003829587] Chr19:7529576 [GRCh38]
Chr19:7594462 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1713C>A (p.Pro571=) single nucleotide variant Mucolipidosis type IV [RCV003831098] Chr19:7533765 [GRCh38]
Chr19:7598651 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.238-12C>T single nucleotide variant Mucolipidosis type IV [RCV003506496] Chr19:7526427 [GRCh38]
Chr19:7591313 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.31+14C>T single nucleotide variant Mucolipidosis type IV [RCV003881976] Chr19:7522795 [GRCh38]
Chr19:7587681 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1360-17C>T single nucleotide variant Mucolipidosis type IV [RCV003506615] Chr19:7530269 [GRCh38]
Chr19:7595155 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.717C>A (p.Thr239=) single nucleotide variant Mucolipidosis type IV [RCV003506644] Chr19:7527900 [GRCh38]
Chr19:7592786 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.32-17C>A single nucleotide variant Mucolipidosis type IV [RCV003506661] Chr19:7524944 [GRCh38]
Chr19:7589830 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1135-11C>T single nucleotide variant Mucolipidosis type IV [RCV003875924] Chr19:7529090 [GRCh38]
Chr19:7593976 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.681-18C>G single nucleotide variant Mucolipidosis type IV [RCV003506473] Chr19:7527846 [GRCh38]
Chr19:7592732 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-15C>T single nucleotide variant Mucolipidosis type IV [RCV003830828] Chr19:7528582 [GRCh38]
Chr19:7593468 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.777+12C>T single nucleotide variant Mucolipidosis type IV [RCV003506454] Chr19:7527972 [GRCh38]
Chr19:7592858 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.571+15C>T single nucleotide variant Mucolipidosis type IV [RCV003506411] Chr19:7526941 [GRCh38]
Chr19:7591827 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.572-17T>C single nucleotide variant Mucolipidosis type IV [RCV003506396] Chr19:7527503 [GRCh38]
Chr19:7592389 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.237+18G>A single nucleotide variant Mucolipidosis type IV [RCV003506487] Chr19:7525184 [GRCh38]
Chr19:7590070 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-18G>A single nucleotide variant Mucolipidosis type IV [RCV003506468] Chr19:7528579 [GRCh38]
Chr19:7593465 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1575+17C>T single nucleotide variant Mucolipidosis type IV [RCV003506621] Chr19:7530518 [GRCh38]
Chr19:7595404 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.681-18C>T single nucleotide variant Mucolipidosis type IV [RCV003506636] Chr19:7527846 [GRCh38]
Chr19:7592732 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-5C>A single nucleotide variant Mucolipidosis type IV [RCV003506665] Chr19:7528153 [GRCh38]
Chr19:7593039 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1706+13G>A single nucleotide variant Mucolipidosis type IV [RCV003506666] Chr19:7533666 [GRCh38]
Chr19:7598552 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.985-15G>A single nucleotide variant Mucolipidosis type IV [RCV003506509] Chr19:7528806 [GRCh38]
Chr19:7593692 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1359+10A>G single nucleotide variant Mucolipidosis type IV [RCV003615138] Chr19:7529722 [GRCh38]
Chr19:7594608 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.237+15G>A single nucleotide variant Mucolipidosis type IV [RCV003615182] Chr19:7525181 [GRCh38]
Chr19:7590067 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1296G>T (p.Val432=) single nucleotide variant Mucolipidosis type IV [RCV003614443] Chr19:7529649 [GRCh38]
Chr19:7594535 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.31+20C>T single nucleotide variant Mucolipidosis type IV [RCV003614459] Chr19:7522801 [GRCh38]
Chr19:7587687 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-14del deletion Mucolipidosis type IV [RCV003615414] Chr19:7528143 [GRCh38]
Chr19:7593029 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.15G>C (p.Ala5=) single nucleotide variant Mucolipidosis type IV [RCV003615442] Chr19:7522765 [GRCh38]
Chr19:7587651 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-13C>T single nucleotide variant Mucolipidosis type IV [RCV003615469] Chr19:7533510 [GRCh38]
Chr19:7598396 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.406-20C>T single nucleotide variant Mucolipidosis type IV [RCV003613727] Chr19:7526741 [GRCh38]
Chr19:7591627 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1188G>A (p.Leu396=) single nucleotide variant Mucolipidosis type IV [RCV003614536] Chr19:7529154 [GRCh38]
Chr19:7594040 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.900G>C (p.Leu300=) single nucleotide variant Mucolipidosis type IV [RCV003613793] Chr19:7528619 [GRCh38]
Chr19:7593505 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.984+11T>C single nucleotide variant Mucolipidosis type IV [RCV003613845] Chr19:7528714 [GRCh38]
Chr19:7593600 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-17C>A single nucleotide variant Mucolipidosis type IV [RCV003613938] Chr19:7528141 [GRCh38]
Chr19:7593027 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1263C>G (p.Ala421=) single nucleotide variant Mucolipidosis type IV [RCV003833932] Chr19:7529616 [GRCh38]
Chr19:7594502 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1359+12C>A single nucleotide variant Mucolipidosis type IV [RCV003613990] Chr19:7529724 [GRCh38]
Chr19:7594610 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.238-12C>A single nucleotide variant Mucolipidosis type IV [RCV003615234] Chr19:7526427 [GRCh38]
Chr19:7591313 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-10G>A single nucleotide variant Mucolipidosis type IV [RCV003614596] Chr19:7528148 [GRCh38]
Chr19:7593034 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-20C>A single nucleotide variant Mucolipidosis type IV [RCV003615277] Chr19:7528577 [GRCh38]
Chr19:7593463 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-13G>T single nucleotide variant Mucolipidosis type IV [RCV003615336] Chr19:7528584 [GRCh38]
Chr19:7593470 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.777+12C>G single nucleotide variant Mucolipidosis type IV [RCV003615406] Chr19:7527972 [GRCh38]
Chr19:7592858 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.571+19G>A single nucleotide variant Mucolipidosis type IV [RCV003615459] Chr19:7526945 [GRCh38]
Chr19:7591831 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1188G>T (p.Leu396=) single nucleotide variant Mucolipidosis type IV [RCV003615466] Chr19:7529154 [GRCh38]
Chr19:7594040 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1458C>T (p.Arg486=) single nucleotide variant Mucolipidosis type IV [RCV003615479] Chr19:7530384 [GRCh38]
Chr19:7595270 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.877+7C>A single nucleotide variant Mucolipidosis type IV [RCV003615521] Chr19:7528264 [GRCh38]
Chr19:7593150 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.798A>G (p.Ala266=) single nucleotide variant Mucolipidosis type IV [RCV003614754] Chr19:7528178 [GRCh38]
Chr19:7593064 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1347C>T (p.Pro449=) single nucleotide variant Mucolipidosis type IV [RCV003614794] Chr19:7529700 [GRCh38]
Chr19:7594586 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.39G>A (p.Glu13=) single nucleotide variant Mucolipidosis type IV [RCV003615313] Chr19:7524968 [GRCh38]
Chr19:7589854 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1707-11C>T single nucleotide variant Mucolipidosis type IV [RCV003615325] Chr19:7533748 [GRCh38]
Chr19:7598634 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.680+17C>T single nucleotide variant Mucolipidosis type IV [RCV003615388] Chr19:7527645 [GRCh38]
Chr19:7592531 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1135-20G>A single nucleotide variant Mucolipidosis type IV [RCV003614944] Chr19:7529081 [GRCh38]
Chr19:7593967 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1134+8C>T single nucleotide variant Mucolipidosis type IV [RCV003614313] Chr19:7528978 [GRCh38]
Chr19:7593864 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.375G>A (p.Leu125=) single nucleotide variant Mucolipidosis type IV [RCV003613540] Chr19:7526576 [GRCh38]
Chr19:7591462 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.663C>T (p.Leu221=) single nucleotide variant Mucolipidosis type IV [RCV003613546] Chr19:7527611 [GRCh38]
Chr19:7592497 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1071G>A (p.Leu357=) single nucleotide variant Mucolipidosis type IV [RCV003615006] Chr19:7528907 [GRCh38]
Chr19:7593793 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.237+16C>A single nucleotide variant Mucolipidosis type IV [RCV003615016] Chr19:7525182 [GRCh38]
Chr19:7590068 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.406-18C>T single nucleotide variant Mucolipidosis type IV [RCV003615028] Chr19:7526743 [GRCh38]
Chr19:7591629 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1707-19C>G single nucleotide variant Mucolipidosis type IV [RCV003613585] Chr19:7533740 [GRCh38]
Chr19:7598626 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.984+11T>G single nucleotide variant Mucolipidosis type IV [RCV003615078] Chr19:7528714 [GRCh38]
Chr19:7593600 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.877+11G>A single nucleotide variant Mucolipidosis type IV [RCV003615121] Chr19:7528268 [GRCh38]
Chr19:7593154 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1224C>T (p.Phe408=) single nucleotide variant Mucolipidosis type IV [RCV003613844] Chr19:7529190 [GRCh38]
Chr19:7594076 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.954C>T (p.Arg318=) single nucleotide variant Mucolipidosis type IV [RCV003613923] Chr19:7528673 [GRCh38]
Chr19:7593559 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1365C>T (p.Arg455=) single nucleotide variant Mucolipidosis type IV [RCV003614337] Chr19:7530291 [GRCh38]
Chr19:7595177 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1344G>A (p.Gly448=) single nucleotide variant Mucolipidosis type IV [RCV003614455] Chr19:7529697 [GRCh38]
Chr19:7594583 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1575+8G>T single nucleotide variant Mucolipidosis type IV [RCV003613561] Chr19:7530509 [GRCh38]
Chr19:7595395 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.46C>T (p.Leu16=) single nucleotide variant Mucolipidosis type IV [RCV003614250] Chr19:7524975 [GRCh38]
Chr19:7589861 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-16C>G single nucleotide variant Mucolipidosis type IV [RCV003614252] Chr19:7533507 [GRCh38]
Chr19:7598393 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.822C>T (p.Ser274=) single nucleotide variant Mucolipidosis type IV [RCV003614670] Chr19:7528202 [GRCh38]
Chr19:7593088 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1135-9C>G single nucleotide variant Mucolipidosis type IV [RCV003613583] Chr19:7529092 [GRCh38]
Chr19:7593978 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.132T>C (p.Arg44=) single nucleotide variant Mucolipidosis type IV [RCV003613596] Chr19:7525061 [GRCh38]
Chr19:7589947 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.238-5C>T single nucleotide variant Mucolipidosis type IV [RCV003614852] Chr19:7526434 [GRCh38]
Chr19:7591320 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-5dup duplication Mucolipidosis type IV [RCV003614953] Chr19:7528148..7528149 [GRCh38]
Chr19:7593034..7593035 [GRCh37]
Chr19:19p13.2		 benign
NM_020533.3(MCOLN1):c.1415_1419del (p.Asp472fs) deletion Mucolipidosis type IV [RCV003613618] Chr19:7530340..7530344 [GRCh38]
Chr19:7595226..7595230 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1236+13C>T single nucleotide variant Mucolipidosis type IV [RCV003615152] Chr19:7529215 [GRCh38]
Chr19:7594101 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.985-16C>T single nucleotide variant Mucolipidosis type IV [RCV003615293] Chr19:7528805 [GRCh38]
Chr19:7593691 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.681-12C>A single nucleotide variant Mucolipidosis type IV [RCV003615302] Chr19:7527852 [GRCh38]
Chr19:7592738 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1359+14C>G single nucleotide variant Mucolipidosis type IV [RCV003856480] Chr19:7529726 [GRCh38]
Chr19:7594612 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-15G>C single nucleotide variant Mucolipidosis type IV [RCV003615463] Chr19:7533508 [GRCh38]
Chr19:7598394 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.960C>T (p.Leu320=) single nucleotide variant Mucolipidosis type IV [RCV003613782] Chr19:7528679 [GRCh38]
Chr19:7593565 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-13C>A single nucleotide variant Mucolipidosis type IV [RCV003615019] Chr19:7533510 [GRCh38]
Chr19:7598396 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1620C>T (p.Tyr540=) single nucleotide variant Mucolipidosis type IV [RCV003615085] Chr19:7533567 [GRCh38]
Chr19:7598453 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1360-16G>T single nucleotide variant Mucolipidosis type IV [RCV003615239] Chr19:7530270 [GRCh38]
Chr19:7595156 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.219C>T (p.Ile73=) single nucleotide variant Mucolipidosis type IV [RCV003851596] Chr19:7525148 [GRCh38]
Chr19:7590034 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.984+16C>T single nucleotide variant Mucolipidosis type IV [RCV003615378] Chr19:7528719 [GRCh38]
Chr19:7593605 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.572-15A>C single nucleotide variant Mucolipidosis type IV [RCV003614298] Chr19:7527505 [GRCh38]
Chr19:7592391 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.378C>T (p.Tyr126=) single nucleotide variant Mucolipidosis type IV [RCV003614310] Chr19:7526579 [GRCh38]
Chr19:7591465 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.231G>C (p.Thr77=) single nucleotide variant Mucolipidosis type IV [RCV003614361] Chr19:7525160 [GRCh38]
Chr19:7590046 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.825G>C (p.Leu275=) single nucleotide variant Mucolipidosis type IV [RCV003614432] Chr19:7528205 [GRCh38]
Chr19:7593091 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1305C>A (p.Ile435=) single nucleotide variant Mucolipidosis type IV [RCV003614533] Chr19:7529658 [GRCh38]
Chr19:7594544 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.777+7C>T single nucleotide variant Mucolipidosis type IV [RCV003817094] Chr19:7527967 [GRCh38]
Chr19:7592853 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1308C>T (p.Tyr436=) single nucleotide variant Mucolipidosis type IV [RCV003614709] Chr19:7529661 [GRCh38]
Chr19:7594547 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.381G>A (p.Gln127=) single nucleotide variant Mucolipidosis type IV [RCV003613622] Chr19:7526582 [GRCh38]
Chr19:7591468 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+8_405+9del deletion Mucolipidosis type IV [RCV003614846] Chr19:7526613..7526614 [GRCh38]
Chr19:7591499..7591500 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.985-19C>T single nucleotide variant Mucolipidosis type IV [RCV003615190] Chr19:7528802 [GRCh38]
Chr19:7593688 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.680+20G>C single nucleotide variant Mucolipidosis type IV [RCV003615213] Chr19:7527648 [GRCh38]
Chr19:7592534 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1135-16C>T single nucleotide variant Mucolipidosis type IV [RCV003615309] Chr19:7529085 [GRCh38]
Chr19:7593971 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.571+12G>C single nucleotide variant Mucolipidosis type IV [RCV003854345] Chr19:7526938 [GRCh38]
Chr19:7591824 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1707-13T>G single nucleotide variant Mucolipidosis type IV [RCV003613787] Chr19:7533746 [GRCh38]
Chr19:7598632 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1494T>A (p.Leu498=) single nucleotide variant Mucolipidosis type IV [RCV003613794] Chr19:7530420 [GRCh38]
Chr19:7595306 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.681-1G>C single nucleotide variant Mucolipidosis type IV [RCV003613797] Chr19:7527863 [GRCh38]
Chr19:7592749 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.237+16C>T single nucleotide variant Mucolipidosis type IV [RCV003614290] Chr19:7525182 [GRCh38]
Chr19:7590068 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-18_878-10del deletion Mucolipidosis type IV [RCV003614318] Chr19:7528576..7528584 [GRCh38]
Chr19:7593462..7593470 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1080C>T (p.Thr360=) single nucleotide variant Mucolipidosis type IV [RCV003614353] Chr19:7528916 [GRCh38]
Chr19:7593802 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-16C>T single nucleotide variant Mucolipidosis type IV [RCV003613889] Chr19:7533507 [GRCh38]
Chr19:7598393 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+17A>C single nucleotide variant Mucolipidosis type IV [RCV003614460] Chr19:7526623 [GRCh38]
Chr19:7591509 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.572-11C>G single nucleotide variant Mucolipidosis type IV [RCV003812087] Chr19:7527509 [GRCh38]
Chr19:7592395 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-9C>T single nucleotide variant Mucolipidosis type IV [RCV003614317] Chr19:7528149 [GRCh38]
Chr19:7593035 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1360-17C>A single nucleotide variant Mucolipidosis type IV [RCV003832940] Chr19:7530269 [GRCh38]
Chr19:7595155 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.24C>A (p.Arg8=) single nucleotide variant Mucolipidosis type IV [RCV003614386] Chr19:7522774 [GRCh38]
Chr19:7587660 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1314C>A (p.Gly438=) single nucleotide variant Mucolipidosis type IV [RCV003614446] Chr19:7529667 [GRCh38]
Chr19:7594553 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.32-15C>T single nucleotide variant Mucolipidosis type IV [RCV003614462] Chr19:7524946 [GRCh38]
Chr19:7589832 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.144T>C (p.Phe48=) single nucleotide variant Mucolipidosis type IV [RCV003614294] Chr19:7525073 [GRCh38]
Chr19:7589959 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.940del (p.Leu314fs) deletion Mucolipidosis type IV [RCV003614562] Chr19:7528658 [GRCh38]
Chr19:7593544 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.32-14T>G single nucleotide variant Mucolipidosis type IV [RCV003614668] Chr19:7524947 [GRCh38]
Chr19:7589833 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.447T>C (p.Tyr149=) single nucleotide variant Mucolipidosis type IV [RCV003614519] Chr19:7526802 [GRCh38]
Chr19:7591688 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.984+18T>C single nucleotide variant Mucolipidosis type IV [RCV003614768] Chr19:7528721 [GRCh38]
Chr19:7593607 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.777+7C>G single nucleotide variant Mucolipidosis type IV [RCV003614842] Chr19:7527967 [GRCh38]
Chr19:7592853 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.680+18G>A single nucleotide variant Mucolipidosis type IV [RCV003615114] Chr19:7527646 [GRCh38]
Chr19:7592532 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1576-20C>G single nucleotide variant Mucolipidosis type IV [RCV003615151] Chr19:7533503 [GRCh38]
Chr19:7598389 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1311G>C (p.Leu437=) single nucleotide variant Mucolipidosis type IV [RCV003838333] Chr19:7529664 [GRCh38]
Chr19:7594550 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1359+11C>T single nucleotide variant Mucolipidosis type IV [RCV003814440] Chr19:7529723 [GRCh38]
Chr19:7594609 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1706+14dup duplication Mucolipidosis type IV [RCV003615123] Chr19:7533664..7533665 [GRCh38]
Chr19:7598550..7598551 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer) insertion Mucolipidosis type IV [RCV003615464] Chr19:7525165..7525166 [GRCh38]
Chr19:7590051..7590052 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1135-17G>A single nucleotide variant Mucolipidosis type IV [RCV003615292] Chr19:7529084 [GRCh38]
Chr19:7593970 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-16C>T single nucleotide variant Mucolipidosis type IV [RCV003615507] Chr19:7528142 [GRCh38]
Chr19:7593028 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.702C>T (p.His234=) single nucleotide variant Mucolipidosis type IV [RCV003814998] Chr19:7527885 [GRCh38]
Chr19:7592771 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.225G>A (p.Val75=) single nucleotide variant Mucolipidosis type IV [RCV003613605] Chr19:7525154 [GRCh38]
Chr19:7590040 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.572-18C>G single nucleotide variant Mucolipidosis type IV [RCV003862875] Chr19:7527502 [GRCh38]
Chr19:7592388 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.405+23_405+58del deletion Mucolipidosis type IV [RCV003841428] Chr19:7526612..7526647 [GRCh38]
Chr19:7591498..7591533 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1518C>T (p.Ile506=) single nucleotide variant Mucolipidosis type IV [RCV003866453] Chr19:7530444 [GRCh38]
Chr19:7595330 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.571+15C>G single nucleotide variant Mucolipidosis type IV [RCV003857570] Chr19:7526941 [GRCh38]
Chr19:7591827 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.406-15C>T single nucleotide variant Mucolipidosis type IV [RCV003857572] Chr19:7526746 [GRCh38]
Chr19:7591632 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1707-18C>T single nucleotide variant Mucolipidosis type IV [RCV003845865] Chr19:7533741 [GRCh38]
Chr19:7598627 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.238-16A>G single nucleotide variant Mucolipidosis type IV [RCV003841597] Chr19:7526423 [GRCh38]
Chr19:7591309 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.984+19G>A single nucleotide variant Mucolipidosis type IV [RCV003868570] Chr19:7528722 [GRCh38]
Chr19:7593608 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.438G>A (p.Arg146=) single nucleotide variant Mucolipidosis type IV [RCV003862748] Chr19:7526793 [GRCh38]
Chr19:7591679 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1465C>T (p.Leu489=) single nucleotide variant Mucolipidosis type IV [RCV003861440] Chr19:7530391 [GRCh38]
Chr19:7595277 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1338G>T (p.Val446=) single nucleotide variant Mucolipidosis type IV [RCV003854115] Chr19:7529691 [GRCh38]
Chr19:7594577 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.31+13_31+32dup duplication Mucolipidosis type IV [RCV003848603] Chr19:7522793..7522794 [GRCh38]
Chr19:7587679..7587680 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.105C>A (p.Pro35=) single nucleotide variant Mucolipidosis type IV [RCV003853929] Chr19:7525034 [GRCh38]
Chr19:7589920 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.992T>G (p.Val331Gly) single nucleotide variant Inborn genetic diseases [RCV004419319]|Mucolipidosis type IV [RCV005104541] Chr19:7528828 [GRCh38]
Chr19:7593714 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_020533.3(MCOLN1):c.320T>C (p.Leu107Pro) single nucleotide variant Inborn genetic diseases [RCV004419315] Chr19:7526521 [GRCh38]
Chr19:7591407 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.608C>T (p.Pro203Leu) single nucleotide variant Inborn genetic diseases [RCV004419317] Chr19:7527556 [GRCh38]
Chr19:7592442 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.641dup (p.Ser214fs) duplication Inborn genetic diseases [RCV004419318] Chr19:7527588..7527589 [GRCh38]
Chr19:7592474..7592475 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.576C>A (p.Cys192Ter) single nucleotide variant Lisch epithelial corneal dystrophy [RCV003985715]|Mucolipidosis type IV [RCV005015109] Chr19:7527524 [GRCh38]
Chr19:7592410 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.708G>A (p.Arg236=) single nucleotide variant MCOLN1-related disorder [RCV003971556] Chr19:7527891 [GRCh38]
Chr19:7592777 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.875A>G (p.His292Arg) single nucleotide variant Inborn genetic diseases [RCV004524516] Chr19:7528255 [GRCh38]
Chr19:7593141 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.416T>C (p.Leu139Ser) single nucleotide variant Mucolipidosis type IV [RCV004555249] Chr19:7526771 [GRCh38]
Chr19:7591657 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1331G>T (p.Trp444Leu) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557791] Chr19:7529684 [GRCh38]
Chr19:7594570 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.878-2A>G single nucleotide variant Mucolipidosis type IV [RCV005416173] Chr19:7528595 [GRCh38]
Chr19:7593481 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_5691310)_(8008536_?)dup duplication not provided [RCV004579685] Chr19:5691310..8008536 [GRCh37]
Chr19:19p13.3-13.2		 uncertain significance
NC_000019.9:g.(?_7504827)_(7712696_?)del deletion Mucolipidosis type IV [RCV004581057] Chr19:7504827..7712696 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_7598389)_(7598681_?)del deletion Mucolipidosis type IV [RCV004581058] Chr19:7598389..7598681 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_7586622)_(7593054_?)del deletion Mucolipidosis type IV [RCV004581059] Chr19:7586622..7593054 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_7586622)_(7593056_?)del deletion Mucolipidosis type IV [RCV004581060] Chr19:7586622..7593056 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_7586623)_(7593055_?)del deletion Mucolipidosis type IV [RCV004581061] Chr19:7586623..7593055 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_020533.3(MCOLN1):c.1041G>A (p.Arg347=) single nucleotide variant Inborn genetic diseases [RCV004637896] Chr19:7528877 [GRCh38]
Chr19:7593763 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1621A>C (p.Ile541Leu) single nucleotide variant Inborn genetic diseases [RCV004637897] Chr19:7533568 [GRCh38]
Chr19:7598454 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.530C>T (p.Pro177Leu) single nucleotide variant not provided [RCV004697774] Chr19:7526885 [GRCh38]
Chr19:7591771 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.955T>C (p.Ser319Pro) single nucleotide variant Inborn genetic diseases [RCV004628650] Chr19:7528674 [GRCh38]
Chr19:7593560 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.408C>G (p.Tyr136Ter) single nucleotide variant Mucolipidosis type IV [RCV004576148] Chr19:7526763 [GRCh38]
Chr19:7591649 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.587A>C (p.Asp196Ala) single nucleotide variant not provided [RCV004761269] Chr19:7527535 [GRCh38]
Chr19:7592421 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1557C>T (p.Gly519=) single nucleotide variant Inborn genetic diseases [RCV004984618] Chr19:7530483 [GRCh38]
Chr19:7595369 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.643dup (p.Ser215fs) duplication Mucolipidosis type IV [RCV005028747] Chr19:7527590..7527591 [GRCh38]
Chr19:7592476..7592477 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.777+1G>T single nucleotide variant Mucolipidosis type IV [RCV005028748] Chr19:7527961 [GRCh38]
Chr19:7592847 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.550A>G (p.Ile184Val) single nucleotide variant Mucolipidosis type IV [RCV005112531]|not provided [RCV005004079] Chr19:7526905 [GRCh38]
Chr19:7591791 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.718A>G (p.Ile240Val) single nucleotide variant Inborn genetic diseases [RCV004984619] Chr19:7527901 [GRCh38]
Chr19:7592787 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1153G>A (p.Val385Ile) single nucleotide variant Inborn genetic diseases [RCV004984620] Chr19:7529119 [GRCh38]
Chr19:7594005 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.878-2A>T single nucleotide variant Mucolipidosis type IV [RCV005028749] Chr19:7528595 [GRCh38]
Chr19:7593481 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1236+14A>G single nucleotide variant Mucolipidosis type IV [RCV005065981] Chr19:7529216 [GRCh38]
Chr19:7594102 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.169C>A (p.Arg57=) single nucleotide variant Mucolipidosis type IV [RCV005145205] Chr19:7525098 [GRCh38]
Chr19:7589984 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1664G>A (p.Arg555His) single nucleotide variant Inborn genetic diseases [RCV005379713]|Mucolipidosis type IV [RCV005106548] Chr19:7533611 [GRCh38]
Chr19:7598497 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.892C>T (p.Arg298Trp) single nucleotide variant Mucolipidosis type IV [RCV005145580] Chr19:7528611 [GRCh38]
Chr19:7593497 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.681-16C>G single nucleotide variant Mucolipidosis type IV [RCV005085380] Chr19:7527848 [GRCh38]
Chr19:7592734 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.778-2A>G single nucleotide variant Mucolipidosis type IV [RCV005015961] Chr19:7528156 [GRCh38]
Chr19:7593042 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1446dup (p.Gln483fs) duplication Mucolipidosis type IV [RCV005015962] Chr19:7530371..7530372 [GRCh38]
Chr19:7595257..7595258 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1575+15C>A single nucleotide variant Mucolipidosis type IV [RCV005063715] Chr19:7530516 [GRCh38]
Chr19:7595402 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1237-12G>T single nucleotide variant Mucolipidosis type IV [RCV005086195] Chr19:7529578 [GRCh38]
Chr19:7594464 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1134+15C>T single nucleotide variant Mucolipidosis type IV [RCV005060904] Chr19:7528985 [GRCh38]
Chr19:7593871 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.201G>A (p.Met67Ile) single nucleotide variant Mucolipidosis type IV [RCV005060094] Chr19:7525130 [GRCh38]
Chr19:7590016 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.31+1_31+2delinsTC indel Mucolipidosis type IV [RCV005015959] Chr19:7522782..7522783 [GRCh38]
Chr19:7587668..7587669 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.238-1G>C single nucleotide variant Mucolipidosis type IV [RCV005015960] Chr19:7526438 [GRCh38]
Chr19:7591324 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.1557C>G (p.Gly519=) single nucleotide variant Mucolipidosis type IV [RCV005116307] Chr19:7530483 [GRCh38]
Chr19:7595369 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1707-17C>G single nucleotide variant Mucolipidosis type IV [RCV005117678] Chr19:7533742 [GRCh38]
Chr19:7598628 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.711G>A (p.Leu237=) single nucleotide variant Mucolipidosis type IV [RCV005122025] Chr19:7527894 [GRCh38]
Chr19:7592780 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1151A>G (p.Asp384Gly) single nucleotide variant Mucolipidosis type IV [RCV005079374] Chr19:7529117 [GRCh38]
Chr19:7594003 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1359+8_1359+12del deletion Mucolipidosis type IV [RCV005118378] Chr19:7529719..7529723 [GRCh38]
Chr19:7594605..7594609 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.523G>A (p.Val175Met) single nucleotide variant Mucolipidosis type IV [RCV005151198] Chr19:7526878 [GRCh38]
Chr19:7591764 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1135-10C>T single nucleotide variant Mucolipidosis type IV [RCV005202799] Chr19:7529091 [GRCh38]
Chr19:7593977 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1359+19G>A single nucleotide variant Mucolipidosis type IV [RCV005191369] Chr19:7529731 [GRCh38]
Chr19:7594617 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1602G>A (p.Glu534=) single nucleotide variant Mucolipidosis type IV [RCV005132187] Chr19:7533549 [GRCh38]
Chr19:7598435 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.369G>A (p.Glu123=) single nucleotide variant Mucolipidosis type IV [RCV005117455] Chr19:7526570 [GRCh38]
Chr19:7591456 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1610T>C (p.Leu537Pro) single nucleotide variant Mucolipidosis type IV [RCV005140034] Chr19:7533557 [GRCh38]
Chr19:7598443 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.778-20_778-11del deletion Mucolipidosis type IV [RCV005121160] Chr19:7528135..7528144 [GRCh38]
Chr19:7593021..7593030 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1012C>T (p.Arg338Trp) single nucleotide variant Mucolipidosis type IV [RCV005190503] Chr19:7528848 [GRCh38]
Chr19:7593734 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1432G>A (p.Ala478Thr) single nucleotide variant Mucolipidosis type IV [RCV005187789] Chr19:7530358 [GRCh38]
Chr19:7595244 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1576-5C>G single nucleotide variant Mucolipidosis type IV [RCV005191718] Chr19:7533518 [GRCh38]
Chr19:7598404 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1237-17C>T single nucleotide variant Mucolipidosis type IV [RCV005119059] Chr19:7529573 [GRCh38]
Chr19:7594459 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.990T>C (p.Phe330=) single nucleotide variant Mucolipidosis type IV [RCV005137491] Chr19:7528826 [GRCh38]
Chr19:7593712 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1246G>A (p.Ala416Thr) single nucleotide variant Mucolipidosis type IV [RCV005205378] Chr19:7529599 [GRCh38]
Chr19:7594485 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.572-12C>T single nucleotide variant Mucolipidosis type IV [RCV005155096] Chr19:7527508 [GRCh38]
Chr19:7592394 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1407T>C (p.Asn469=) single nucleotide variant Mucolipidosis type IV [RCV005115830] Chr19:7530333 [GRCh38]
Chr19:7595219 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1431C>T (p.Phe477=) single nucleotide variant Mucolipidosis type IV [RCV005155327] Chr19:7530357 [GRCh38]
Chr19:7595243 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1134+13A>G single nucleotide variant Mucolipidosis type IV [RCV005115836] Chr19:7528983 [GRCh38]
Chr19:7593869 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1611G>T (p.Leu537=) single nucleotide variant Mucolipidosis type IV [RCV005151276] Chr19:7533558 [GRCh38]
Chr19:7598444 [GRCh37]
Chr19:19p13.2		 likely benign
NM_020533.3(MCOLN1):c.1002G>A (p.Met334Ile) single nucleotide variant Inborn genetic diseases [RCV005377981] Chr19:7528838 [GRCh38]
Chr19:7593724 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.622G>T (p.Asp208Tyr) single nucleotide variant Inborn genetic diseases [RCV005377984] Chr19:7527570 [GRCh38]
Chr19:7592456 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1112T>C (p.Met371Thr) single nucleotide variant Inborn genetic diseases [RCV005377983] Chr19:7528948 [GRCh38]
Chr19:7593834 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1346C>T (p.Pro449Leu) single nucleotide variant Inborn genetic diseases [RCV005364428] Chr19:7529699 [GRCh38]
Chr19:7594585 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.182G>C (p.Arg61Pro) single nucleotide variant Inborn genetic diseases [RCV005377982] Chr19:7525111 [GRCh38]
Chr19:7589997 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.1384G>T (p.Glu462Ter) single nucleotide variant Mucolipidosis type IV [RCV005416295] Chr19:7530310 [GRCh38]
Chr19:7595196 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_020533.3(MCOLN1):c.488T>C (p.Leu163Pro) single nucleotide variant Mucolipidosis type IV [RCV005410230] Chr19:7526843 [GRCh38]
Chr19:7591729 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_020533.3(MCOLN1):c.778-14A>G single nucleotide variant Mucolipidosis type IV [RCV005416174] Chr19:7528144 [GRCh38]
Chr19:7593030 [GRCh37]
Chr19:19p13.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2802
Count of miRNA genes:883
Interacting mature miRNAs:1096
Transcripts:ENST00000264079, ENST00000394321, ENST00000594692, ENST00000595860, ENST00000596008, ENST00000596390, ENST00000598406, ENST00000599334, ENST00000601003, ENST00000602227
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
597321674GWAS1417748_HJT interval QTL GWAS1417748 (human)4e-08heart electrical impulse conduction trait (VT:2000017)heart electrical conduction measurement (CMO:0000230)1975245077524508Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
597101733GWAS1197807_Hopioid overdose severity measurement QTL GWAS1197807 (human)3e-09response to addictive substance trait (VT:0010488)1975241757524176Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
597317185GWAS1413259_HJT interval QTL GWAS1413259 (human)9e-09heart electrical impulse conduction trait (VT:2000017)heart electrical conduction measurement (CMO:0000230)1975245077524508Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human
597101736GWAS1197810_Hopioid overdose severity measurement QTL GWAS1197810 (human)1e-08response to addictive substance trait (VT:0010488)1975241757524176Human

Markers in Region
RH68764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,585,753 - 7,585,875UniSTSGRCh37
Build 36197,491,753 - 7,491,875RGDNCBI36
Celera197,458,276 - 7,458,398RGD
Cytogenetic Map19p13.2UniSTS
HuRef197,256,928 - 7,257,050UniSTS
GeneMap99-GB4 RH Map1940.39UniSTS
RH93812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,585,582 - 7,585,721UniSTSGRCh37
Build 36197,491,582 - 7,491,721RGDNCBI36
Celera197,458,105 - 7,458,244RGD
Cytogenetic Map19p13.2UniSTS
HuRef197,256,757 - 7,256,896UniSTS
GeneMap99-GB4 RH Map1941.03UniSTS
RH80512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,598,513 - 7,598,819UniSTSGRCh37
Build 36197,504,513 - 7,504,819RGDNCBI36
Celera197,471,036 - 7,471,342RGD
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
HuRef197,269,669 - 7,269,975UniSTS
GeneMap99-GB4 RH Map1952.16UniSTS
RH91529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,598,440 - 7,598,696UniSTSGRCh37
Build 36197,504,440 - 7,504,696RGDNCBI36
Celera197,470,963 - 7,471,219RGD
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
HuRef197,269,596 - 7,269,852UniSTS
GeneMap99-GB4 RH Map1941.65UniSTS
PMC88885P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,589,917 - 7,590,035UniSTSGRCh37
Build 36197,495,917 - 7,496,035RGDNCBI36
Celera197,462,440 - 7,462,558RGD
HuRef197,261,093 - 7,261,211UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D8S2282  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4p16.3UniSTS


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 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA831948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF171088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF249319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF287269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF287270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ293659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ293970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC356874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264079   ⟹   ENSP00000264079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,522,624 - 7,534,009 (+)Ensembl
Ensembl Acc Id: ENST00000394321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,522,671 - 7,533,990 (+)Ensembl
Ensembl Acc Id: ENST00000594692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,528,971 - 7,530,400 (+)Ensembl
Ensembl Acc Id: ENST00000595860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,528,654 - 7,530,501 (+)Ensembl
Ensembl Acc Id: ENST00000596008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,526,240 - 7,527,165 (+)Ensembl
Ensembl Acc Id: ENST00000596390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,522,635 - 7,525,991 (+)Ensembl
Ensembl Acc Id: ENST00000598406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,526,381 - 7,527,771 (+)Ensembl
Ensembl Acc Id: ENST00000599334   ⟹   ENSP00000472176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,528,960 - 7,533,990 (+)Ensembl
Ensembl Acc Id: ENST00000601003   ⟹   ENSP00000469074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,522,687 - 7,527,894 (+)Ensembl
Ensembl Acc Id: ENST00000602227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,533,394 - 7,533,990 (+)Ensembl
RefSeq Acc Id: NM_020533   ⟹   NP_065394
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,522,624 - 7,534,009 (+)NCBI
GRCh37197,587,496 - 7,598,895 (+)ENTREZGENE
Build 36197,493,512 - 7,504,864 (+)NCBI Archive
HuRef197,258,672 - 7,270,051 (+)ENTREZGENE
CHM1_1197,587,414 - 7,598,813 (+)NCBI
T2T-CHM13v2.0197,523,360 - 7,534,743 (+)NCBI
Sequence:
RefSeq Acc Id: NP_065394   ⟸   NM_020533
- UniProtKB: Q9H4B3 (UniProtKB/Swiss-Prot),   Q9H292 (UniProtKB/Swiss-Prot),   Q7Z4F7 (UniProtKB/Swiss-Prot),   D6W647 (UniProtKB/Swiss-Prot),   Q9H4B5 (UniProtKB/Swiss-Prot),   Q9GZU1 (UniProtKB/Swiss-Prot),   Q53HA8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000472176   ⟸   ENST00000599334
Ensembl Acc Id: ENSP00000469074   ⟸   ENST00000601003
Ensembl Acc Id: ENSP00000264079   ⟸   ENST00000264079
Protein Domains
Mucolipin extracytosolic   Polycystin cation channel PKD1/PKD2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9GZU1-F1-model_v2 AlphaFold Q9GZU1 1-580 view protein structure

Promoters
RGD ID:6795821
Promoter ID:HG_KWN:28712
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394321,   NM_020533,   UC010DVH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36197,493,214 - 7,493,714 (+)MPROMDB
RGD ID:7238283
Promoter ID:EPDNEW_H24887
Type:initiation region
Name:MCOLN1_1
Description:mucolipin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,522,624 - 7,522,684EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13356 AgrOrtholog
COSMIC MCOLN1 COSMIC
Ensembl Genes ENSG00000090674 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000264079 ENTREZGENE
  ENST00000264079.11 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot
GTEx ENSG00000090674 GTEx
HGNC ID HGNC:13356 ENTREZGENE
Human Proteome Map MCOLN1 Human Proteome Map
InterPro MCLN_ECD UniProtKB/Swiss-Prot
  ML1_ELD UniProtKB/Swiss-Prot
  Mucolipin UniProtKB/Swiss-Prot
  PKD1_2_channel UniProtKB/Swiss-Prot
KEGG Report hsa:57192 UniProtKB/Swiss-Prot
NCBI Gene 57192 ENTREZGENE
OMIM 605248 OMIM
PANTHER MUCOLIPIN-1 UniProtKB/Swiss-Prot
  PTHR12127 UniProtKB/Swiss-Prot
Pfam MCLN_ECD UniProtKB/Swiss-Prot
  PKD_channel UniProtKB/Swiss-Prot
PharmGKB PA30699 PharmGKB
UniProt D6W647 ENTREZGENE
  M0QXD0_HUMAN UniProtKB/TrEMBL
  M0R1X7_HUMAN UniProtKB/TrEMBL
  MCLN1_HUMAN UniProtKB/Swiss-Prot
  Q53HA8 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z4F7 ENTREZGENE
  Q9GZU1 ENTREZGENE
  Q9H292 ENTREZGENE
  Q9H4B3 ENTREZGENE
  Q9H4B5 ENTREZGENE
UniProt Secondary D6W647 UniProtKB/Swiss-Prot
  Q7Z4F7 UniProtKB/Swiss-Prot
  Q9H292 UniProtKB/Swiss-Prot
  Q9H4B3 UniProtKB/Swiss-Prot
  Q9H4B5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-11-02 MCOLN1  mucolipin TRP cation channel 1  MCOLN1  mucolipin 1  Symbol and/or name change 19259463 PROVISIONAL