MANBA (mannosidase beta) - Rat Genome Database

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Gene: MANBA (mannosidase beta) Homo sapiens
Analyze
Symbol: MANBA
Name: mannosidase beta
RGD ID: 1314025
HGNC Page HGNC:6831
Description: Enables beta-mannosidase activity. Predicted to be involved in glycoprotein catabolic process. Predicted to be located in extracellular space. Predicted to be active in lysosomal lumen. Implicated in beta-mannosidosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-mannosidase; beta-mannosidase A; lysosomal beta A mannosidase; MANB1; mannanase; mannase; mannosidase, beta A, lysosomal
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384102,630,770 - 102,760,968 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4102,630,770 - 102,760,994 (-)EnsemblGRCh38hg38GRCh38
GRCh374103,551,927 - 103,682,125 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364103,771,691 - 103,901,196 (-)NCBINCBI36Build 36hg18NCBI36
Build 344103,909,850 - 104,039,341NCBI
Celera4100,851,923 - 100,981,403 (-)NCBICelera
Cytogenetic Map4q24NCBI
HuRef499,288,756 - 99,418,261 (-)NCBIHuRef
CHM1_14103,528,967 - 103,658,610 (-)NCBICHM1_1
T2T-CHM13v2.04105,944,714 - 106,074,870 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1736542   PMID:2187500   PMID:2283726   PMID:2355006   PMID:2541446   PMID:2542563   PMID:2649653   PMID:2829950   PMID:3099781   PMID:3264072   PMID:7876128   PMID:8093218  
PMID:8218172   PMID:8285582   PMID:8673525   PMID:8892864   PMID:9109416   PMID:9384606   PMID:11530211   PMID:12477932   PMID:12560567   PMID:15489334   PMID:16344560   PMID:17899454  
PMID:18215327   PMID:18314154   PMID:18330979   PMID:18854154   PMID:19728872   PMID:19773279   PMID:20332099   PMID:20800603   PMID:21833088   PMID:21873635   PMID:22268729   PMID:23128233  
PMID:26186194   PMID:28514442   PMID:28986522   PMID:29117863   PMID:30528300   PMID:30552791   PMID:32409323   PMID:33441424   PMID:33961781   PMID:34870556   PMID:34943047   PMID:35007762  
PMID:35696571   PMID:35897697   PMID:36180527   PMID:36215168   PMID:37689310  


Genomics

Comparative Map Data
MANBA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384102,630,770 - 102,760,968 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4102,630,770 - 102,760,994 (-)EnsemblGRCh38hg38GRCh38
GRCh374103,551,927 - 103,682,125 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364103,771,691 - 103,901,196 (-)NCBINCBI36Build 36hg18NCBI36
Build 344103,909,850 - 104,039,341NCBI
Celera4100,851,923 - 100,981,403 (-)NCBICelera
Cytogenetic Map4q24NCBI
HuRef499,288,756 - 99,418,261 (-)NCBIHuRef
CHM1_14103,528,967 - 103,658,610 (-)NCBICHM1_1
T2T-CHM13v2.04105,944,714 - 106,074,870 (-)NCBIT2T-CHM13v2.0
Manba
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393135,191,367 - 135,277,165 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3135,191,372 - 135,277,165 (+)EnsemblGRCm39 Ensembl
GRCm383135,485,611 - 135,571,404 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3135,485,611 - 135,571,404 (+)EnsemblGRCm38mm10GRCm38
MGSCv373135,148,575 - 135,234,368 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363135,423,055 - 135,508,791 (+)NCBIMGSCv36mm8
Celera3141,900,054 - 141,991,576 (+)NCBICelera
Cytogenetic Map3G3NCBI
cM Map362.65NCBI
Manba
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82226,583,968 - 226,676,520 (+)NCBIGRCr8
mRatBN7.22223,910,432 - 224,002,988 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2223,910,432 - 224,002,983 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2231,635,810 - 231,734,245 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02229,535,549 - 229,633,977 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02224,400,334 - 224,498,764 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02240,668,213 - 240,760,264 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2240,668,195 - 240,760,261 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02259,187,111 - 259,227,267 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02259,281,496 - 259,317,121 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42232,983,989 - 233,077,788 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12233,032,256 - 233,064,521 (+)NCBI
Celera2216,118,587 - 216,213,623 (+)NCBICelera
Cytogenetic Map2q43NCBI
Manba
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554965,744,250 - 5,841,293 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554965,744,374 - 5,837,974 (+)NCBIChiLan1.0ChiLan1.0
MANBA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23100,715,092 - 100,844,606 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14101,001,618 - 101,131,136 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0495,055,206 - 95,184,727 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14105,718,176 - 105,846,251 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4105,718,124 - 105,846,251 (-)Ensemblpanpan1.1panPan2
MANBA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13224,052,078 - 24,167,565 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3224,038,920 - 24,167,535 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3217,856,745 - 17,971,441 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03224,271,881 - 24,386,916 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3224,271,886 - 24,386,953 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13224,251,773 - 24,404,094 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03224,031,263 - 24,147,488 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03215,715,565 - 15,830,821 (+)NCBIUU_Cfam_GSD_1.0
Manba
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530117,273,310 - 17,371,563 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936520616,826 - 713,793 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936520616,762 - 715,010 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MANBA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8118,251,106 - 118,361,900 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18118,251,122 - 118,361,903 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28127,225,147 - 127,302,034 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MANBA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1750,725,249 - 50,860,041 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl750,725,248 - 50,859,995 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603729,236,817 - 29,371,373 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Manba
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248305,254,495 - 5,330,611 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248305,254,545 - 5,329,627 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MANBA
692 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
MANBA, IVS-AS, A-G, -2 single nucleotide variant Beta-D-mannosidosis [RCV000001743] Chr4:4q22-q25 pathogenic
NM_005908.4(MANBA):c.960+1G>A single nucleotide variant Beta-D-mannosidosis [RCV000001744]|not provided [RCV001572804] Chr4:102689573 [GRCh38]
Chr4:103610730 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer) duplication Beta-D-mannosidosis [RCV000001745] Chr4:102714538..102714539 [GRCh38]
Chr4:103635695..103635696 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1705-1G>A single nucleotide variant Beta-D-mannosidosis [RCV000001746] Chr4:102650702 [GRCh38]
Chr4:103571859 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1513T>C (p.Ser505Pro) single nucleotide variant Beta-D-mannosidosis [RCV000001747] Chr4:102657873 [GRCh38]
Chr4:103579030 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.375A>G (p.Arg125=) single nucleotide variant Beta-D-mannosidosis [RCV000001748] Chr4:102723865 [GRCh38]
Chr4:103645022 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.247G>T (p.Glu83Ter) single nucleotide variant Beta-D-mannosidosis [RCV000001749] Chr4:102726614 [GRCh38]
Chr4:103647771 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1276C>T (p.Gln426Ter) single nucleotide variant Beta-D-mannosidosis [RCV000001750] Chr4:102669004 [GRCh38]
Chr4:103590161 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) deletion Beta-D-mannosidosis [RCV000001751] Chr4:102664715..102664716 [GRCh38]
Chr4:103585872..103585873 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) single nucleotide variant Beta-D-mannosidosis [RCV001356140]|MANBA-related condition [RCV003392564]|not provided [RCV000729716] Chr4:102657764 [GRCh38]
Chr4:103578921 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
NM_005908.4(MANBA):c.2015-28G>A single nucleotide variant Beta-D-mannosidosis [RCV001775578]|not provided [RCV000675785]|not specified [RCV000081335] Chr4:102636035 [GRCh38]
Chr4:103557192 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) single nucleotide variant Beta-D-mannosidosis [RCV000403534]|not provided [RCV000675784]|not specified [RCV000081336] Chr4:102635920 [GRCh38]
Chr4:103557077 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) single nucleotide variant Beta-D-mannosidosis [RCV000374634]|not provided [RCV000675782]|not specified [RCV000081337] Chr4:102634835 [GRCh38]
Chr4:103555992 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.850-31T>C single nucleotide variant not provided [RCV001650922]|not specified [RCV000081338] Chr4:102689715 [GRCh38]
Chr4:103610872 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1318-1G>T single nucleotide variant Beta-D-mannosidosis [RCV000691116]|not provided [RCV000515074] Chr4:102664853 [GRCh38]
Chr4:103586010 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.347T>C (p.Ile116Thr) single nucleotide variant Beta-D-mannosidosis [RCV001304050]|Inborn genetic diseases [RCV003346443] Chr4:102723893 [GRCh38]
Chr4:103645050 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.708G>A (p.Glu236=) single nucleotide variant Beta-D-mannosidosis [RCV003600363]|not provided [RCV000179457] Chr4:102690737 [GRCh38]
Chr4:103611894 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.531T>C (p.His177=) single nucleotide variant Beta-D-mannosidosis [RCV000259278]|not provided [RCV003311773] Chr4:102722889 [GRCh38]
Chr4:103644046 [GRCh37]
Chr4:4q24		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.178-8A>G single nucleotide variant Beta-D-mannosidosis [RCV000284121]|not provided [RCV000675794] Chr4:102726691 [GRCh38]
Chr4:103647848 [GRCh37]
Chr4:4q24		 benign|likely benign|uncertain significance
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) single nucleotide variant Beta-D-mannosidosis [RCV000285809]|MANBA-related condition [RCV003957797] Chr4:102634957 [GRCh38]
Chr4:103556114 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) single nucleotide variant Beta-D-mannosidosis [RCV000279979]|not provided [RCV001706558] Chr4:102634852 [GRCh38]
Chr4:103556009 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.*505G>A single nucleotide variant Beta-D-mannosidosis [RCV000282019] Chr4:102631552 [GRCh38]
Chr4:103552709 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) single nucleotide variant Beta-D-mannosidosis [RCV000274747] Chr4:102632259 [GRCh38]
Chr4:103553416 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.*8T>G single nucleotide variant Beta-D-mannosidosis [RCV000268843]|MANBA-related condition [RCV003957796]|not provided [RCV000675779] Chr4:102632049 [GRCh38]
Chr4:103553206 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.*172G>A single nucleotide variant Beta-D-mannosidosis [RCV000272304] Chr4:102631885 [GRCh38]
Chr4:103553042 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) single nucleotide variant Beta-D-mannosidosis [RCV000333263]|not provided [RCV000675780]|not specified [RCV001795965] Chr4:102632215 [GRCh38]
Chr4:103553372 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) single nucleotide variant Beta-D-mannosidosis [RCV000354084]|not provided [RCV000675791]|not specified [RCV000454742] Chr4:102690688 [GRCh38]
Chr4:103611845 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) single nucleotide variant Beta-D-mannosidosis [RCV000316346] Chr4:102634892 [GRCh38]
Chr4:103556049 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.315G>A (p.Thr105=) single nucleotide variant Beta-D-mannosidosis [RCV000378502]|not provided [RCV000675793] Chr4:102723925 [GRCh38]
Chr4:103645082 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.831A>G (p.Leu277=) single nucleotide variant Beta-D-mannosidosis [RCV000318038]|not provided [RCV000675790] Chr4:102690614 [GRCh38]
Chr4:103611771 [GRCh37]
Chr4:4q24		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005908.4(MANBA):c.*437A>T single nucleotide variant Beta-D-mannosidosis [RCV000337144] Chr4:102631620 [GRCh38]
Chr4:103552777 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) single nucleotide variant Beta-D-mannosidosis [RCV000380220]|Inborn genetic diseases [RCV002520193]|not provided [RCV000675783] Chr4:102634907 [GRCh38]
Chr4:103556064 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2389G>A (p.Val797Met) single nucleotide variant Beta-D-mannosidosis [RCV000319966]|Inborn genetic diseases [RCV002520192] Chr4:102634814 [GRCh38]
Chr4:103555971 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.-58G>A single nucleotide variant Beta-D-mannosidosis [RCV000320521] Chr4:102760952 [GRCh38]
Chr4:103682109 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.*401G>A single nucleotide variant Beta-D-mannosidosis [RCV000406421] Chr4:102631656 [GRCh38]
Chr4:103552813 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys) single nucleotide variant Beta-D-mannosidosis [RCV000340658] Chr4:102634991 [GRCh38]
Chr4:103556148 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.*356G>A single nucleotide variant Beta-D-mannosidosis [RCV000342767] Chr4:102631701 [GRCh38]
Chr4:103552858 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.*124T>C single nucleotide variant Beta-D-mannosidosis [RCV000363290]|not provided [RCV001613144] Chr4:102631933 [GRCh38]
Chr4:103553090 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.*516T>C single nucleotide variant Beta-D-mannosidosis [RCV000385785] Chr4:102631541 [GRCh38]
Chr4:103552698 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu) single nucleotide variant Beta-D-mannosidosis [RCV000307397]|Inborn genetic diseases [RCV002520194] Chr4:102657704 [GRCh38]
Chr4:103578861 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.479G>A (p.Arg160His) single nucleotide variant Beta-D-mannosidosis [RCV000323955]|MANBA-related condition [RCV003972468] Chr4:102722941 [GRCh38]
Chr4:103644098 [GRCh37]
Chr4:4q24		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.*161C>T single nucleotide variant Beta-D-mannosidosis [RCV000308561]|not provided [RCV001675848] Chr4:102631896 [GRCh38]
Chr4:103553053 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1705-13C>T single nucleotide variant Beta-D-mannosidosis [RCV000346937]|not provided [RCV000675786] Chr4:102650714 [GRCh38]
Chr4:103571871 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.1112+8A>C single nucleotide variant Beta-D-mannosidosis [RCV000367783] Chr4:102673911 [GRCh38]
Chr4:103595068 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr) single nucleotide variant Beta-D-mannosidosis [RCV000369357] Chr4:102632224 [GRCh38]
Chr4:103553381 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1705-13C>A single nucleotide variant Beta-D-mannosidosis [RCV000393420]|not provided [RCV000675787] Chr4:102650714 [GRCh38]
Chr4:103571871 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) single nucleotide variant Beta-D-mannosidosis [RCV000393423]|MANBA-related condition [RCV003932409]|not provided [RCV000675789] Chr4:102664688 [GRCh38]
Chr4:103585845 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.*384C>T single nucleotide variant Beta-D-mannosidosis [RCV000297145] Chr4:102631673 [GRCh38]
Chr4:103552830 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala) single nucleotide variant Beta-D-mannosidosis [RCV000371143] Chr4:102657864 [GRCh38]
Chr4:103579021 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.*317A>G single nucleotide variant Beta-D-mannosidosis [RCV000394857]|not provided [RCV001643052] Chr4:102631740 [GRCh38]
Chr4:103552897 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile) single nucleotide variant Beta-D-mannosidosis [RCV000313181] Chr4:102664693 [GRCh38]
Chr4:103585850 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1573A>G (p.Ser525Gly) single nucleotide variant Beta-D-mannosidosis [RCV002518914]|not provided [RCV000269671] Chr4:102657813 [GRCh38]
Chr4:103578970 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.961-8C>A single nucleotide variant Beta-D-mannosidosis [RCV000262831] Chr4:102674078 [GRCh38]
Chr4:103595235 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys) single nucleotide variant Beta-D-mannosidosis [RCV002503982]|not provided [RCV000356216] Chr4:102664740 [GRCh38]
Chr4:103585897 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2378C>T (p.Pro793Leu) single nucleotide variant Beta-D-mannosidosis [RCV001963786] Chr4:102634825 [GRCh38]
Chr4:103555982 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.*314A>G single nucleotide variant Beta-D-mannosidosis [RCV000303177] Chr4:102631743 [GRCh38]
Chr4:103552900 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) single nucleotide variant Beta-D-mannosidosis [RCV000292081] Chr4:102639774 [GRCh38]
Chr4:103560931 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg) single nucleotide variant Beta-D-mannosidosis [RCV000625858] Chr4:102714521 [GRCh38]
Chr4:103635678 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.*184A>G single nucleotide variant Beta-D-mannosidosis [RCV000357648] Chr4:102631873 [GRCh38]
Chr4:103553030 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.130G>A (p.Val44Ile) single nucleotide variant Beta-D-mannosidosis [RCV000528483] Chr4:102760765 [GRCh38]
Chr4:103681922 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser) single nucleotide variant Beta-D-mannosidosis [RCV000538639] Chr4:102634921 [GRCh38]
Chr4:103556078 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24		 pathogenic
NM_005908.4(MANBA):c.2416-10del deletion Beta-D-mannosidosis [RCV001511546]|not provided [RCV000675781]|not specified [RCV000454463] Chr4:102632291 [GRCh38]
Chr4:103553448 [GRCh37]
Chr4:4q24		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs) deletion Beta-D-mannosidosis [RCV000652550] Chr4:102634847..102634851 [GRCh38]
Chr4:103556004..103556008 [GRCh37]
Chr4:4q24		 likely pathogenic|uncertain significance
NM_005908.4(MANBA):c.1375G>A (p.Glu459Lys) single nucleotide variant Inborn genetic diseases [RCV003266822] Chr4:102664795 [GRCh38]
Chr4:103585952 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) deletion Beta-D-mannosidosis [RCV000652551]|not provided [RCV003156276] Chr4:102657845..102657846 [GRCh38]
Chr4:103579002..103579003 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_005908.4(MANBA):c.1485+9T>C single nucleotide variant Beta-D-mannosidosis [RCV000652552] Chr4:102664676 [GRCh38]
Chr4:103585833 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.2416-9del deletion Beta-D-mannosidosis [RCV001392636] Chr4:102632290 [GRCh38]
Chr4:103553447 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter) single nucleotide variant Beta-D-mannosidosis [RCV001375175]|not provided [RCV000512955] Chr4:102669044 [GRCh38]
Chr4:103590201 [GRCh37]
Chr4:4q24		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_005908.4(MANBA):c.1485+23G>A single nucleotide variant not provided [RCV000675788] Chr4:102664662 [GRCh38]
Chr4:103585819 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs) microsatellite Beta-D-mannosidosis [RCV001861694]|not provided [RCV000658299] Chr4:102664717..102664718 [GRCh38]
Chr4:103585874..103585875 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) single nucleotide variant Beta-D-mannosidosis [RCV002531373]|not provided [RCV000675792] Chr4:102690714 [GRCh38]
Chr4:103611871 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_005908.4(MANBA):c.177+26G>A single nucleotide variant not provided [RCV000675795] Chr4:102760692 [GRCh38]
Chr4:103681849 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.378+1G>A single nucleotide variant Beta-D-mannosidosis [RCV000709926] Chr4:102723861 [GRCh38]
Chr4:103645018 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005908.3(MANBA):c.1454_1455delAT (p.Tyr485Cysfs) deletion Beta-D-mannosidosis [RCV000691646] Chr4:102664715..102664716 [GRCh38]
Chr4:103585872..103585873 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1496GTC[1] (p.Arg500del) microsatellite not provided [RCV001529904] Chr4:102657885..102657887 [GRCh38]
Chr4:103579042..103579044 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.273-62A>G single nucleotide variant not provided [RCV001582241] Chr4:102724029 [GRCh38]
Chr4:103645186 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2158-2A>G single nucleotide variant Beta-D-mannosidosis [RCV000754553]|Hearing impairment [RCV001261779] Chr4:102635047 [GRCh38]
Chr4:103556204 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_005908.4(MANBA):c.674-209C>T single nucleotide variant not provided [RCV001707465] Chr4:102690980 [GRCh38]
Chr4:103612137 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.961-256A>G single nucleotide variant not provided [RCV001584979] Chr4:102674326 [GRCh38]
Chr4:103595483 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.550-249T>C single nucleotide variant not provided [RCV001546205] Chr4:102714810 [GRCh38]
Chr4:103635967 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.674-41AT[6] microsatellite not provided [RCV001645463] Chr4:102690795..102690800 [GRCh38]
Chr4:103611952..103611957 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2014+69A>G single nucleotide variant not provided [RCV001550572] Chr4:102639644 [GRCh38]
Chr4:103560801 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2201G>A (p.Arg734His) single nucleotide variant Beta-D-mannosidosis [RCV001065601]|not provided [RCV003328651] Chr4:102635002 [GRCh38]
Chr4:103556159 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.77G>A (p.Arg26His) single nucleotide variant Beta-D-mannosidosis [RCV001147333] Chr4:102760818 [GRCh38]
Chr4:103681975 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.549+240G>A single nucleotide variant not provided [RCV001570526] Chr4:102722631 [GRCh38]
Chr4:103643788 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.*447G>A single nucleotide variant Beta-D-mannosidosis [RCV001147161] Chr4:102631610 [GRCh38]
Chr4:103552767 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2015-299T>A single nucleotide variant not provided [RCV001648679] Chr4:102636306 [GRCh38]
Chr4:103557463 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.673+255G>T single nucleotide variant not provided [RCV001693100] Chr4:102714183 [GRCh38]
Chr4:103635340 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) single nucleotide variant Beta-D-mannosidosis [RCV001148154] Chr4:102639814 [GRCh38]
Chr4:103560971 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.961-301G>A single nucleotide variant not provided [RCV001610836] Chr4:102674371 [GRCh38]
Chr4:103595528 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.478C>T (p.Arg160Cys) single nucleotide variant Beta-D-mannosidosis [RCV000972726]|Inborn genetic diseases [RCV003346235]|MANBA-related condition [RCV003962898] Chr4:102722942 [GRCh38]
Chr4:103644099 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) single nucleotide variant Beta-D-mannosidosis [RCV000973891]|MANBA-related condition [RCV003918536] Chr4:102669026 [GRCh38]
Chr4:103590183 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.2592T>C (p.Asn864=) single nucleotide variant Beta-D-mannosidosis [RCV003497906] Chr4:102632105 [GRCh38]
Chr4:103553262 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2601G>A (p.Glu867=) single nucleotide variant Beta-D-mannosidosis [RCV002547264] Chr4:102632096 [GRCh38]
Chr4:103553253 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.780A>T (p.Thr260=) single nucleotide variant Beta-D-mannosidosis [RCV003600395] Chr4:102690665 [GRCh38]
Chr4:103611822 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.178-3C>T single nucleotide variant Beta-D-mannosidosis [RCV001059030] Chr4:102726686 [GRCh38]
Chr4:103647843 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) single nucleotide variant Beta-D-mannosidosis [RCV000780390] Chr4:102690752 [GRCh38]
Chr4:103611909 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2015-87C>T single nucleotide variant not provided [RCV000826231] Chr4:102636094 [GRCh38]
Chr4:103557251 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2158-260C>G single nucleotide variant not provided [RCV000826235] Chr4:102635305 [GRCh38]
Chr4:103556462 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2415+269A>G single nucleotide variant not provided [RCV000826240] Chr4:102634519 [GRCh38]
Chr4:103555676 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2415+1G>C single nucleotide variant Beta-D-mannosidosis [RCV000778713] Chr4:102634787 [GRCh38]
Chr4:103555944 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) single nucleotide variant Beta-D-mannosidosis [RCV000968074]|not provided [RCV001702757] Chr4:102635886 [GRCh38]
Chr4:103557043 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.2416-9C>T single nucleotide variant Beta-D-mannosidosis [RCV000972062] Chr4:102632290 [GRCh38]
Chr4:103553447 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) single nucleotide variant Beta-D-mannosidosis [RCV000960579]|MANBA-related condition [RCV003916025]|not provided [RCV003438631] Chr4:102635012 [GRCh38]
Chr4:103556169 [GRCh37]
Chr4:4q24		 benign|conflicting interpretations of pathogenicity
NM_005908.4(MANBA):c.2014+169G>A single nucleotide variant not provided [RCV000833244] Chr4:102639544 [GRCh38]
Chr4:103560701 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2015-55G>A single nucleotide variant not provided [RCV000826232] Chr4:102636062 [GRCh38]
Chr4:103557219 [GRCh37]
Chr4:4q24		 benign
NC_000004.12:g.102636035C>T single nucleotide variant not provided [RCV000826233] Chr4:103557192 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2415+326G>C single nucleotide variant not provided [RCV000826242] Chr4:102634462 [GRCh38]
Chr4:103555619 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn) single nucleotide variant Beta-D-mannosidosis [RCV000802096]|Inborn genetic diseases [RCV002534697] Chr4:102632157 [GRCh38]
Chr4:103553314 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2158-166dup duplication not provided [RCV000826236] Chr4:102635210..102635211 [GRCh38]
Chr4:103556367..103556368 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2415+142C>G single nucleotide variant not provided [RCV000826239] Chr4:102634646 [GRCh38]
Chr4:103555803 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2157+161A>G single nucleotide variant not provided [RCV000826234] Chr4:102635704 [GRCh38]
Chr4:103556861 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2415+124C>T single nucleotide variant not provided [RCV000826238] Chr4:102634664 [GRCh38]
Chr4:103555821 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2416-105G>A single nucleotide variant not provided [RCV000826244] Chr4:102632386 [GRCh38]
Chr4:103553543 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys) single nucleotide variant Beta-D-mannosidosis [RCV000792727] Chr4:102664699 [GRCh38]
Chr4:103585856 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.*328T>A single nucleotide variant Beta-D-mannosidosis [RCV001148060] Chr4:102631729 [GRCh38]
Chr4:103552886 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2015-147C>G single nucleotide variant not provided [RCV000826230] Chr4:102636154 [GRCh38]
Chr4:103557311 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2416-227C>T single nucleotide variant not provided [RCV000826243] Chr4:102632508 [GRCh38]
Chr4:103553665 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2415+299del deletion not provided [RCV000826241] Chr4:102634489 [GRCh38]
Chr4:103555646 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1511_1512insAATA (p.Ser505fs) insertion not provided [RCV001090883] Chr4:102657874..102657875 [GRCh38]
Chr4:103579031..103579032 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.2158-114A>G single nucleotide variant not provided [RCV000826237] Chr4:102635159 [GRCh38]
Chr4:103556316 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.57G>C (p.Ala19=) single nucleotide variant not provided [RCV000893461] Chr4:102760838 [GRCh38]
Chr4:103681995 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys) single nucleotide variant Beta-D-mannosidosis [RCV001148153]|MANBA-related condition [RCV003906264] Chr4:102639806 [GRCh38]
Chr4:103560963 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu) single nucleotide variant Beta-D-mannosidosis [RCV001148155] Chr4:102650652 [GRCh38]
Chr4:103571809 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q24(chr4:102980012-103706640)x1 copy number loss not provided [RCV000848913] Chr4:102980012..103706640 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2416-3C>T single nucleotide variant Beta-D-mannosidosis [RCV001145309]|Intellectual disability [RCV001252565] Chr4:102632284 [GRCh38]
Chr4:103553441 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.492C>T (p.Pro164=) single nucleotide variant Beta-D-mannosidosis [RCV001145401] Chr4:102722928 [GRCh38]
Chr4:103644085 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1837C>T (p.Arg613Cys) single nucleotide variant Beta-D-mannosidosis [RCV001201700] Chr4:102650569 [GRCh38]
Chr4:103571726 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.308T>C (p.Val103Ala) single nucleotide variant Beta-D-mannosidosis [RCV003105036] Chr4:102723932 [GRCh38]
Chr4:103645089 [GRCh37]
Chr4:4q24		 uncertain significance
NC_000004.11:g.(?_102001669)_(103806607_?)del deletion not provided [RCV003105379] Chr4:102001669..103806607 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.674-41AT[10] microsatellite not provided [RCV001551188] Chr4:102690794..102690795 [GRCh38]
Chr4:103611951..103611952 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.960+213A>T single nucleotide variant not provided [RCV001675119] Chr4:102689361 [GRCh38]
Chr4:103610518 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1112+126C>T single nucleotide variant not provided [RCV001713793] Chr4:102673793 [GRCh38]
Chr4:103594950 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1230+144A>T single nucleotide variant not provided [RCV001569363] Chr4:102671137 [GRCh38]
Chr4:103592294 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2014+75C>T single nucleotide variant not provided [RCV001580883] Chr4:102639638 [GRCh38]
Chr4:103560795 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.178-207G>A single nucleotide variant not provided [RCV001594057] Chr4:102726890 [GRCh38]
Chr4:103648047 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.960+186CA[4] microsatellite not provided [RCV001676352] Chr4:102689379..102689380 [GRCh38]
Chr4:103610536..103610537 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.960+214_960+215insA insertion not provided [RCV001639717] Chr4:102689359..102689360 [GRCh38]
Chr4:103610516..103610517 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2014+53G>C single nucleotide variant not provided [RCV001570235] Chr4:102639660 [GRCh38]
Chr4:103560817 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1113-77_1113-76dup duplication not provided [RCV001639955] Chr4:102671473..102671474 [GRCh38]
Chr4:103592630..103592631 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.960+213del deletion not provided [RCV001676893] Chr4:102689361 [GRCh38]
Chr4:103610518 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1318-968G>A single nucleotide variant not provided [RCV001617407] Chr4:102665820 [GRCh38]
Chr4:103586977 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.674-90C>A single nucleotide variant not provided [RCV001677044] Chr4:102690861 [GRCh38]
Chr4:103612018 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.960+186CA[3] microsatellite not provided [RCV001708227] Chr4:102689379..102689382 [GRCh38]
Chr4:103610536..103610539 [GRCh37]
Chr4:4q24		 benign
NC_000004.11:g.(?_101947022)_(106061534_?)del deletion not provided [RCV003107794] Chr4:101947022..106061534 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1112+158A>G single nucleotide variant not provided [RCV001694641] Chr4:102673761 [GRCh38]
Chr4:103594918 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1317+107G>T single nucleotide variant not provided [RCV001719660] Chr4:102668856 [GRCh38]
Chr4:103590013 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.960+225del deletion not provided [RCV001719666] Chr4:102689349 [GRCh38]
Chr4:103610506 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.960+192_960+197del deletion not provided [RCV001585182] Chr4:102689377..102689382 [GRCh38]
Chr4:103610534..103610539 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.212G>C (p.Arg71Thr) single nucleotide variant not provided [RCV001531403] Chr4:102726649 [GRCh38]
Chr4:103647806 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2379G>A (p.Pro793=) single nucleotide variant Beta-D-mannosidosis [RCV002065762] Chr4:102634824 [GRCh38]
Chr4:103555981 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.555A>G (p.Gln185=) single nucleotide variant not provided [RCV000929727] Chr4:102714556 [GRCh38]
Chr4:103635713 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.807A>G (p.Gln269=) single nucleotide variant Beta-D-mannosidosis [RCV002065513] Chr4:102690638 [GRCh38]
Chr4:103611795 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1112+9T>C single nucleotide variant Beta-D-mannosidosis [RCV000931267] Chr4:102673910 [GRCh38]
Chr4:103595067 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.961G>T (p.Val321Phe) single nucleotide variant Beta-D-mannosidosis [RCV001482799]|Inborn genetic diseases [RCV003338841]|MANBA-related condition [RCV003948389] Chr4:102674070 [GRCh38]
Chr4:103595227 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp) single nucleotide variant Beta-D-mannosidosis [RCV001145400] Chr4:102690699 [GRCh38]
Chr4:103611856 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.*521G>A single nucleotide variant Beta-D-mannosidosis [RCV001147159] Chr4:102631536 [GRCh38]
Chr4:103552693 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.960+192C>T single nucleotide variant not provided [RCV001557974] Chr4:102689382 [GRCh38]
Chr4:103610539 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1870-92A>G single nucleotide variant not provided [RCV001558349] Chr4:102639949 [GRCh38]
Chr4:103561106 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1485+212G>C single nucleotide variant not provided [RCV001552245] Chr4:102664473 [GRCh38]
Chr4:103585630 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1230+153G>A single nucleotide variant not provided [RCV001559768] Chr4:102671128 [GRCh38]
Chr4:103592285 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.850-267A>G single nucleotide variant not provided [RCV001560154] Chr4:102689951 [GRCh38]
Chr4:103611108 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1113-46dup duplication not provided [RCV001565671] Chr4:102671434..102671435 [GRCh38]
Chr4:103592591..103592592 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.960+195AT[11] microsatellite not provided [RCV001566457] Chr4:102689359..102689360 [GRCh38]
Chr4:103610516..103610517 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2015-234T>A single nucleotide variant not provided [RCV001561587] Chr4:102636241 [GRCh38]
Chr4:103557398 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.960+108A>T single nucleotide variant not provided [RCV001556240] Chr4:102689466 [GRCh38]
Chr4:103610623 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1704+202C>T single nucleotide variant not provided [RCV001674400] Chr4:102657480 [GRCh38]
Chr4:103578637 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.272+61G>T single nucleotide variant not provided [RCV001688859] Chr4:102726528 [GRCh38]
Chr4:103647685 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.960+194C>T single nucleotide variant not provided [RCV001617055] Chr4:102689380 [GRCh38]
Chr4:103610537 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2542G>A (p.Glu848Lys) single nucleotide variant Beta-D-mannosidosis [RCV002568895]|not provided [RCV001531402] Chr4:102632155 [GRCh38]
Chr4:103553312 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1231-58T>C single nucleotide variant not provided [RCV001594348] Chr4:102669107 [GRCh38]
Chr4:103590264 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2014+125T>A single nucleotide variant not provided [RCV001594628] Chr4:102639588 [GRCh38]
Chr4:103560745 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.378+32del deletion not provided [RCV001617898] Chr4:102723830 [GRCh38]
Chr4:103644987 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter) single nucleotide variant Beta-D-mannosidosis [RCV001194223] Chr4:102664772 [GRCh38]
Chr4:103585929 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val) single nucleotide variant Beta-D-mannosidosis [RCV001145398]|not provided [RCV003442214] Chr4:102673959 [GRCh38]
Chr4:103595116 [GRCh37]
Chr4:4q24		 uncertain significance
NC_000004.12:g.(?_102650517)_(102726703_?)del deletion Beta-D-mannosidosis [RCV001033374] Chr4:103571674..103647860 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1112+138C>T single nucleotide variant not provided [RCV001616754] Chr4:102673781 [GRCh38]
Chr4:103594938 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.272+185T>C single nucleotide variant not provided [RCV001652819] Chr4:102726404 [GRCh38]
Chr4:103647561 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1113-97T>C single nucleotide variant not provided [RCV001678777] Chr4:102671495 [GRCh38]
Chr4:103592652 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.961-62T>A single nucleotide variant not provided [RCV001680706] Chr4:102674132 [GRCh38]
Chr4:103595289 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.272+103TGTTT[5] microsatellite not provided [RCV001668052] Chr4:102726466..102726467 [GRCh38]
Chr4:103647623..103647624 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.849+220T>A single nucleotide variant not provided [RCV001682017] Chr4:102690376 [GRCh38]
Chr4:103611533 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.960+223_960+225del deletion not provided [RCV001651790] Chr4:102689349..102689351 [GRCh38]
Chr4:103610506..103610508 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1230+164_1230+165insAG insertion not provided [RCV001648420] Chr4:102671116..102671117 [GRCh38]
Chr4:103592273..103592274 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2358C>T (p.Asn786=) single nucleotide variant Beta-D-mannosidosis [RCV001145310] Chr4:102634845 [GRCh38]
Chr4:103556002 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.1231-284C>T single nucleotide variant not provided [RCV001565109] Chr4:102669333 [GRCh38]
Chr4:103590490 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.272+85dup duplication not provided [RCV001545733] Chr4:102726494..102726495 [GRCh38]
Chr4:103647651..103647652 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1317+14C>A single nucleotide variant Beta-D-mannosidosis [RCV001149707] Chr4:102668949 [GRCh38]
Chr4:103590106 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
Single allele deletion Common variable immunodeficiency [RCV001027728] Chr4:103436974..103652655 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2269T>C (p.Leu757=) single nucleotide variant Beta-D-mannosidosis [RCV001147254] Chr4:102634934 [GRCh38]
Chr4:103556091 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=) single nucleotide variant Beta-D-mannosidosis [RCV001147255] Chr4:102635907 [GRCh38]
Chr4:103557064 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.1746A>T (p.Ser582=) single nucleotide variant Beta-D-mannosidosis [RCV001148156] Chr4:102650660 [GRCh38]
Chr4:103571817 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.849+13A>C single nucleotide variant Beta-D-mannosidosis [RCV001145399] Chr4:102690583 [GRCh38]
Chr4:103611740 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp) single nucleotide variant Beta-D-mannosidosis [RCV001054878] Chr4:102671394 [GRCh38]
Chr4:103592551 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.*503G>C single nucleotide variant Beta-D-mannosidosis [RCV001147160] Chr4:102631554 [GRCh38]
Chr4:103552711 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys) single nucleotide variant Beta-D-mannosidosis [RCV001147334] Chr4:102760827 [GRCh38]
Chr4:103681984 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys) single nucleotide variant Beta-D-mannosidosis [RCV001203321] Chr4:102636004 [GRCh38]
Chr4:103557161 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2189C>G (p.Pro730Arg) single nucleotide variant Intellectual disability [RCV001252569] Chr4:102635014 [GRCh38]
Chr4:103556171 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2245C>A (p.Leu749Ile) single nucleotide variant Intellectual disability [RCV001252570] Chr4:102634958 [GRCh38]
Chr4:103556115 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.796A>G (p.Ile266Val) single nucleotide variant Intellectual disability [RCV001252567] Chr4:102690649 [GRCh38]
Chr4:103611806 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) single nucleotide variant Beta-D-mannosidosis [RCV001264746]|Intellectual disability [RCV001252566]|not provided [RCV001786457] Chr4:102639805 [GRCh38]
Chr4:103560962 [GRCh37]
Chr4:4q24		 likely pathogenic|likely benign|uncertain significance
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys) single nucleotide variant Beta-D-mannosidosis [RCV001312918]|Intellectual disability [RCV001252568] Chr4:102639815 [GRCh38]
Chr4:103560972 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) single nucleotide variant Beta-D-mannosidosis [RCV001265535] Chr4:102722875 [GRCh38]
Chr4:103644032 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q24(chr4:102851823-104641864) copy number loss Immunodeficiency, common variable, 12 [RCV002280616] Chr4:102851823..104641864 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter) single nucleotide variant Beta-D-mannosidosis [RCV002281766] Chr4:102650653 [GRCh38]
Chr4:103571810 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_005908.4(MANBA):c.304G>A (p.Gly102Arg) single nucleotide variant Inborn genetic diseases [RCV001265698] Chr4:102723936 [GRCh38]
Chr4:103645093 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.177+2T>C single nucleotide variant Beta-D-mannosidosis [RCV001330145] Chr4:102760716 [GRCh38]
Chr4:103681873 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys) single nucleotide variant Beta-D-mannosidosis [RCV001343579] Chr4:102722938 [GRCh38]
Chr4:103644095 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.778A>G (p.Thr260Ala) single nucleotide variant Beta-D-mannosidosis [RCV001362626] Chr4:102690667 [GRCh38]
Chr4:103611824 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1735A>G (p.Ser579Gly) single nucleotide variant Beta-D-mannosidosis [RCV001312409] Chr4:102650671 [GRCh38]
Chr4:103571828 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu) single nucleotide variant Beta-D-mannosidosis [RCV001346793] Chr4:102723012 [GRCh38]
Chr4:103644169 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys) single nucleotide variant Beta-D-mannosidosis [RCV001360439]|not provided [RCV001289096] Chr4:102674006 [GRCh38]
Chr4:103595163 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) single nucleotide variant Beta-D-mannosidosis [RCV001330146]|MANBA-related condition [RCV003928842] Chr4:102635023 [GRCh38]
Chr4:103556180 [GRCh37]
Chr4:4q24		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.1511C>T (p.Thr504Met) single nucleotide variant Beta-D-mannosidosis [RCV001326759] Chr4:102657875 [GRCh38]
Chr4:103579032 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp) single nucleotide variant Beta-D-mannosidosis [RCV001295287] Chr4:102639782 [GRCh38]
Chr4:103560939 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1887T>C (p.Cys629=) single nucleotide variant not specified [RCV001358701] Chr4:102639840 [GRCh38]
Chr4:103560997 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2489T>G (p.Leu830Trp) single nucleotide variant Beta-D-mannosidosis [RCV001296695] Chr4:102632208 [GRCh38]
Chr4:103553365 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs) microsatellite Beta-D-mannosidosis [RCV001317549]|not specified [RCV001779154] Chr4:102632152..102632153 [GRCh38]
Chr4:103553309..103553310 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.935G>C (p.Gly312Ala) single nucleotide variant Beta-D-mannosidosis [RCV001350791] Chr4:102689599 [GRCh38]
Chr4:103610756 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.536A>G (p.Asn179Ser) single nucleotide variant Beta-D-mannosidosis [RCV001335336] Chr4:102722884 [GRCh38]
Chr4:103644041 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val) single nucleotide variant Beta-D-mannosidosis [RCV001330144] Chr4:102664788 [GRCh38]
Chr4:103585945 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln) single nucleotide variant Beta-D-mannosidosis [RCV003120591]|Hearing impairment [RCV001375433]|not provided [RCV001573483] Chr4:102657737 [GRCh38]
Chr4:103578894 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1823G>A (p.Ser608Asn) single nucleotide variant Beta-D-mannosidosis [RCV001338915] Chr4:102650583 [GRCh38]
Chr4:103571740 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.168C>T (p.Gly56=) single nucleotide variant Beta-D-mannosidosis [RCV001451424] Chr4:102760727 [GRCh38]
Chr4:103681884 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.674-41AT[8] microsatellite not provided [RCV001651411] Chr4:102690795..102690796 [GRCh38]
Chr4:103611952..103611953 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1869+267= single nucleotide variant not provided [RCV001615541] Chr4:102650270 [GRCh38]
Chr4:103571427 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.674-115A>G single nucleotide variant not provided [RCV001640988] Chr4:102690886 [GRCh38]
Chr4:103612043 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1317+106T>A single nucleotide variant not provided [RCV001615818] Chr4:102668857 [GRCh38]
Chr4:103590014 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.177+183G>A single nucleotide variant not provided [RCV001696530] Chr4:102760535 [GRCh38]
Chr4:103681692 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1317+71G>C single nucleotide variant not provided [RCV001648423] Chr4:102668892 [GRCh38]
Chr4:103590049 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.792C>T (p.Tyr264=) single nucleotide variant Beta-D-mannosidosis [RCV001435921]|MANBA-related condition [RCV003946137] Chr4:102690653 [GRCh38]
Chr4:103611810 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2416-20dup duplication Beta-D-mannosidosis [RCV001520034] Chr4:102632290..102632291 [GRCh38]
Chr4:103553447..103553448 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.549+1G>A single nucleotide variant Beta-D-mannosidosis [RCV001726523] Chr4:102722870 [GRCh38]
Chr4:103644027 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.2175dup (p.Ser726fs) duplication Beta-D-mannosidosis [RCV003497945]|not specified [RCV002238619] Chr4:102635027..102635028 [GRCh38]
Chr4:103556184..103556185 [GRCh37]
Chr4:4q24		 pathogenic|uncertain significance
NM_005908.4(MANBA):c.378+32dup duplication not provided [RCV001779846] Chr4:102723829..102723830 [GRCh38]
Chr4:103644986..103644987 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp) single nucleotide variant Beta-D-mannosidosis [RCV001782416] Chr4:102722876 [GRCh38]
Chr4:103644033 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.163C>G (p.Gln55Glu) single nucleotide variant Beta-D-mannosidosis [RCV002539148]|not provided [RCV001761073] Chr4:102760732 [GRCh38]
Chr4:103681889 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.961-2A>C single nucleotide variant Beta-D-mannosidosis [RCV003864319] Chr4:102674072 [GRCh38]
Chr4:103595229 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile) single nucleotide variant Beta-D-mannosidosis [RCV001785228]|Inborn genetic diseases [RCV003264096] Chr4:102634996 [GRCh38]
Chr4:103556153 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2357A>G (p.Asn786Ser) single nucleotide variant Beta-D-mannosidosis [RCV001870607] Chr4:102634846 [GRCh38]
Chr4:103556003 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.53C>T (p.Ala18Val) single nucleotide variant not provided [RCV001765776] Chr4:102760842 [GRCh38]
Chr4:103681999 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.961-50T>C single nucleotide variant not provided [RCV001779700] Chr4:102674120 [GRCh38]
Chr4:103595277 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.177+4T>C single nucleotide variant Beta-D-mannosidosis [RCV001968479] Chr4:102760714 [GRCh38]
Chr4:103681871 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1057A>G (p.Lys353Glu) single nucleotide variant Beta-D-mannosidosis [RCV001950564] Chr4:102673974 [GRCh38]
Chr4:103595131 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2632A>G (p.Ile878Val) single nucleotide variant Beta-D-mannosidosis [RCV002009354] Chr4:102632065 [GRCh38]
Chr4:103553222 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25		 likely pathogenic
NM_005908.4(MANBA):c.1073T>C (p.Ile358Thr) single nucleotide variant Beta-D-mannosidosis [RCV001892138] Chr4:102673958 [GRCh38]
Chr4:103595115 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.649T>C (p.Tyr217His) single nucleotide variant Beta-D-mannosidosis [RCV001874266] Chr4:102714462 [GRCh38]
Chr4:103635619 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.597G>A (p.Gln199=) single nucleotide variant Beta-D-mannosidosis [RCV002041993] Chr4:102714514 [GRCh38]
Chr4:103635671 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.279G>A (p.Trp93Ter) single nucleotide variant Beta-D-mannosidosis [RCV001870727] Chr4:102723961 [GRCh38]
Chr4:103645118 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1572T>C (p.Asn524=) single nucleotide variant Beta-D-mannosidosis [RCV001948144] Chr4:102657814 [GRCh38]
Chr4:103578971 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.847A>C (p.Lys283Gln) single nucleotide variant Beta-D-mannosidosis [RCV002042956] Chr4:102690598 [GRCh38]
Chr4:103611755 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2516T>G (p.Phe839Cys) single nucleotide variant Beta-D-mannosidosis [RCV002006833] Chr4:102632181 [GRCh38]
Chr4:103553338 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2539A>C (p.Thr847Pro) single nucleotide variant Beta-D-mannosidosis [RCV001965677] Chr4:102632158 [GRCh38]
Chr4:103553315 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1754G>A (p.Arg585Gln) single nucleotide variant Beta-D-mannosidosis [RCV002040875] Chr4:102650652 [GRCh38]
Chr4:103571809 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1709C>T (p.Ser570Leu) single nucleotide variant Beta-D-mannosidosis [RCV001890729] Chr4:102650697 [GRCh38]
Chr4:103571854 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1339C>T (p.Pro447Ser) single nucleotide variant Beta-D-mannosidosis [RCV001927160]|Inborn genetic diseases [RCV002554181] Chr4:102664831 [GRCh38]
Chr4:103585988 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2363A>T (p.His788Leu) single nucleotide variant Beta-D-mannosidosis [RCV001893121] Chr4:102634840 [GRCh38]
Chr4:103555997 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.61C>T (p.Leu21Phe) single nucleotide variant Beta-D-mannosidosis [RCV001987535] Chr4:102760834 [GRCh38]
Chr4:103681991 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.676A>G (p.Lys226Glu) single nucleotide variant Beta-D-mannosidosis [RCV001986060] Chr4:102690769 [GRCh38]
Chr4:103611926 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1610T>A (p.Ile537Asn) single nucleotide variant Beta-D-mannosidosis [RCV002007860] Chr4:102657776 [GRCh38]
Chr4:103578933 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_005908.4(MANBA):c.2138A>T (p.Asp713Val) single nucleotide variant Beta-D-mannosidosis [RCV002001926] Chr4:102635884 [GRCh38]
Chr4:103557041 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1439A>G (p.Asp480Gly) single nucleotide variant Beta-D-mannosidosis [RCV001908365] Chr4:102664731 [GRCh38]
Chr4:103585888 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1403A>G (p.His468Arg) single nucleotide variant Beta-D-mannosidosis [RCV001894244] Chr4:102664767 [GRCh38]
Chr4:103585924 [GRCh37]
Chr4:4q24		 uncertain significance
NC_000004.11:g.(?_101947022)_(104640832_?)del deletion Beta-D-mannosidosis [RCV001946800]|not provided [RCV003107924] Chr4:101947022..104640832 [GRCh37]
Chr4:4q24		 pathogenic|no classifications from unflagged records
NM_005908.4(MANBA):c.169C>A (p.Leu57Met) single nucleotide variant Beta-D-mannosidosis [RCV001891770] Chr4:102760726 [GRCh38]
Chr4:103681883 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1927G>A (p.Glu643Lys) single nucleotide variant Beta-D-mannosidosis [RCV001968485] Chr4:102639800 [GRCh38]
Chr4:103560957 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2630A>G (p.Asp877Gly) single nucleotide variant Beta-D-mannosidosis [RCV002005690] Chr4:102632067 [GRCh38]
Chr4:103553224 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2221A>G (p.Met741Val) single nucleotide variant not specified [RCV001844631] Chr4:102634982 [GRCh38]
Chr4:103556139 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2351C>T (p.Pro784Leu) single nucleotide variant Beta-D-mannosidosis [RCV001888432]|Inborn genetic diseases [RCV003355602] Chr4:102634852 [GRCh38]
Chr4:103556009 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.50C>T (p.Thr17Ile) single nucleotide variant Beta-D-mannosidosis [RCV001962462] Chr4:102760845 [GRCh38]
Chr4:103682002 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2551C>T (p.Arg851Ter) single nucleotide variant Beta-D-mannosidosis [RCV001941372] Chr4:102632146 [GRCh38]
Chr4:103553303 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2541_2542insAT (p.Glu848fs) insertion Beta-D-mannosidosis [RCV001944865] Chr4:102632155..102632156 [GRCh38]
Chr4:103553312..103553313 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1434del (p.Lys479fs) deletion Beta-D-mannosidosis [RCV001924819] Chr4:102664736 [GRCh38]
Chr4:103585893 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.599G>C (p.Gly200Ala) single nucleotide variant Beta-D-mannosidosis [RCV001886016] Chr4:102714512 [GRCh38]
Chr4:103635669 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1421G>A (p.Arg474Gln) single nucleotide variant Beta-D-mannosidosis [RCV001941456] Chr4:102664749 [GRCh38]
Chr4:103585906 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.617G>A (p.Arg206Lys) single nucleotide variant Beta-D-mannosidosis [RCV002018879] Chr4:102714494 [GRCh38]
Chr4:103635651 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1628G>A (p.Trp543Ter) single nucleotide variant Beta-D-mannosidosis [RCV001953560] Chr4:102657758 [GRCh38]
Chr4:103578915 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.913G>A (p.Val305Ile) single nucleotide variant Beta-D-mannosidosis [RCV002038352]|Inborn genetic diseases [RCV003339903] Chr4:102689621 [GRCh38]
Chr4:103610778 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.1131G>C (p.Gln377His) single nucleotide variant Beta-D-mannosidosis [RCV001942987] Chr4:102671380 [GRCh38]
Chr4:103592537 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) single nucleotide variant Beta-D-mannosidosis [RCV002048507] Chr4:102657887 [GRCh38]
Chr4:103579044 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.418A>G (p.Ile140Val) single nucleotide variant Beta-D-mannosidosis [RCV001898365] Chr4:102723002 [GRCh38]
Chr4:103644159 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2470G>A (p.Val824Ile) single nucleotide variant Beta-D-mannosidosis [RCV001918421] Chr4:102632227 [GRCh38]
Chr4:103553384 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter) single nucleotide variant Beta-D-mannosidosis [RCV001915943] Chr4:102635992 [GRCh38]
Chr4:103557149 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1240G>A (p.Asp414Asn) single nucleotide variant Beta-D-mannosidosis [RCV001930553] Chr4:102669040 [GRCh38]
Chr4:103590197 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1846A>G (p.Lys616Glu) single nucleotide variant Beta-D-mannosidosis [RCV002047659] Chr4:102650560 [GRCh38]
Chr4:103571717 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.818G>A (p.Arg273Lys) single nucleotide variant Beta-D-mannosidosis [RCV001870089] Chr4:102690627 [GRCh38]
Chr4:103611784 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.124G>A (p.Gly42Arg) single nucleotide variant Beta-D-mannosidosis [RCV001930871]|Inborn genetic diseases [RCV002556450] Chr4:102760771 [GRCh38]
Chr4:103681928 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.242G>A (p.Ser81Asn) single nucleotide variant Beta-D-mannosidosis [RCV001884933] Chr4:102726619 [GRCh38]
Chr4:103647776 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1865C>T (p.Thr622Ile) single nucleotide variant Beta-D-mannosidosis [RCV002036727] Chr4:102650541 [GRCh38]
Chr4:103571698 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.177+3A>G single nucleotide variant Beta-D-mannosidosis [RCV001923951] Chr4:102760715 [GRCh38]
Chr4:103681872 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.494C>T (p.Pro165Leu) single nucleotide variant Beta-D-mannosidosis [RCV002013145] Chr4:102722926 [GRCh38]
Chr4:103644083 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2174G>C (p.Trp725Ser) single nucleotide variant Beta-D-mannosidosis [RCV001903968] Chr4:102635029 [GRCh38]
Chr4:103556186 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.520G>T (p.Gly174Cys) single nucleotide variant Beta-D-mannosidosis [RCV002017226] Chr4:102722900 [GRCh38]
Chr4:103644057 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2633T>C (p.Ile878Thr) single nucleotide variant Beta-D-mannosidosis [RCV001919762] Chr4:102632064 [GRCh38]
Chr4:103553221 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1952C>T (p.Thr651Met) single nucleotide variant Beta-D-mannosidosis [RCV001940503] Chr4:102639775 [GRCh38]
Chr4:103560932 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1300G>A (p.Ala434Thr) single nucleotide variant Beta-D-mannosidosis [RCV001955027] Chr4:102668980 [GRCh38]
Chr4:103590137 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.303G>A (p.Glu101=) single nucleotide variant Beta-D-mannosidosis [RCV001875699] Chr4:102723937 [GRCh38]
Chr4:103645094 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.475A>G (p.Thr159Ala) single nucleotide variant Beta-D-mannosidosis [RCV001935917] Chr4:102722945 [GRCh38]
Chr4:103644102 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1916G>A (p.Arg639His) single nucleotide variant Beta-D-mannosidosis [RCV001938398] Chr4:102639811 [GRCh38]
Chr4:103560968 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.815A>G (p.Lys272Arg) single nucleotide variant Beta-D-mannosidosis [RCV001959496] Chr4:102690630 [GRCh38]
Chr4:103611787 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.908T>A (p.Met303Lys) single nucleotide variant Beta-D-mannosidosis [RCV001960216] Chr4:102689626 [GRCh38]
Chr4:103610783 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.194_214del (p.Phe65_Arg71del) deletion Beta-D-mannosidosis [RCV002009533] Chr4:102726647..102726667 [GRCh38]
Chr4:103647804..103647824 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.550-1G>A single nucleotide variant Beta-D-mannosidosis [RCV002029701] Chr4:102714562 [GRCh38]
Chr4:103635719 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.469G>C (p.Ala157Pro) single nucleotide variant Beta-D-mannosidosis [RCV001930488] Chr4:102722951 [GRCh38]
Chr4:103644108 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.700G>A (p.Glu234Lys) single nucleotide variant Beta-D-mannosidosis [RCV001934197] Chr4:102690745 [GRCh38]
Chr4:103611902 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1420C>T (p.Arg474Trp) single nucleotide variant Beta-D-mannosidosis [RCV001937396] Chr4:102664750 [GRCh38]
Chr4:103585907 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2102C>G (p.Thr701Arg) single nucleotide variant Beta-D-mannosidosis [RCV002029192] Chr4:102635920 [GRCh38]
Chr4:103557077 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1113-3C>T single nucleotide variant Beta-D-mannosidosis [RCV001916208] Chr4:102671401 [GRCh38]
Chr4:103592558 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2401A>C (p.Lys801Gln) single nucleotide variant Beta-D-mannosidosis [RCV002012841] Chr4:102634802 [GRCh38]
Chr4:103555959 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2416-11_2416-10del deletion Beta-D-mannosidosis [RCV002128863] Chr4:102632291..102632292 [GRCh38]
Chr4:103553448..103553449 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2158-8C>T single nucleotide variant Beta-D-mannosidosis [RCV002088970] Chr4:102635053 [GRCh38]
Chr4:103556210 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.420T>C (p.Ile140=) single nucleotide variant Beta-D-mannosidosis [RCV002092798] Chr4:102723000 [GRCh38]
Chr4:103644157 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1557C>G (p.Val519=) single nucleotide variant Beta-D-mannosidosis [RCV002106456] Chr4:102657829 [GRCh38]
Chr4:103578986 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.123C>A (p.Pro41=) single nucleotide variant Beta-D-mannosidosis [RCV002127698] Chr4:102760772 [GRCh38]
Chr4:103681929 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2406G>A (p.Ala802=) single nucleotide variant Beta-D-mannosidosis [RCV002196685] Chr4:102634797 [GRCh38]
Chr4:103555954 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1485+9T>A single nucleotide variant Beta-D-mannosidosis [RCV002111292] Chr4:102664676 [GRCh38]
Chr4:103585833 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1485+16del deletion Beta-D-mannosidosis [RCV002116678] Chr4:102664669 [GRCh38]
Chr4:103585826 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2415+19G>A single nucleotide variant Beta-D-mannosidosis [RCV002130989] Chr4:102634769 [GRCh38]
Chr4:103555926 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2014+14C>T single nucleotide variant Beta-D-mannosidosis [RCV002115856] Chr4:102639699 [GRCh38]
Chr4:103560856 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.552G>A (p.Glu184=) single nucleotide variant Beta-D-mannosidosis [RCV002086625] Chr4:102714559 [GRCh38]
Chr4:103635716 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2416-1091G>A single nucleotide variant not provided [RCV002214322] Chr4:102633372 [GRCh38]
Chr4:103554529 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1851T>C (p.Asp617=) single nucleotide variant Beta-D-mannosidosis [RCV002171116] Chr4:102650555 [GRCh38]
Chr4:103571712 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1704+16A>G single nucleotide variant Beta-D-mannosidosis [RCV002215462] Chr4:102657666 [GRCh38]
Chr4:103578823 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2014+15G>A single nucleotide variant Beta-D-mannosidosis [RCV002105922] Chr4:102639698 [GRCh38]
Chr4:103560855 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.673+19T>C single nucleotide variant Beta-D-mannosidosis [RCV002196271] Chr4:102714419 [GRCh38]
Chr4:103635576 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.178-10G>A single nucleotide variant Beta-D-mannosidosis [RCV002132928] Chr4:102726693 [GRCh38]
Chr4:103647850 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.674-9A>G single nucleotide variant Beta-D-mannosidosis [RCV002137485] Chr4:102690780 [GRCh38]
Chr4:103611937 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2473G>T (p.Ala825Ser) single nucleotide variant Beta-D-mannosidosis [RCV002121129] Chr4:102632224 [GRCh38]
Chr4:103553381 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.690G>A (p.Glu230=) single nucleotide variant Beta-D-mannosidosis [RCV002139982] Chr4:102690755 [GRCh38]
Chr4:103611912 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1512G>A (p.Thr504=) single nucleotide variant Beta-D-mannosidosis [RCV002122755] Chr4:102657874 [GRCh38]
Chr4:103579031 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.726C>G (p.Val242=) single nucleotide variant Beta-D-mannosidosis [RCV002103368] Chr4:102690719 [GRCh38]
Chr4:103611876 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.12C>T (p.His4=) single nucleotide variant Beta-D-mannosidosis [RCV002162839] Chr4:102760883 [GRCh38]
Chr4:103682040 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2416-22_2416-18del deletion Beta-D-mannosidosis [RCV002220400] Chr4:102632299..102632303 [GRCh38]
Chr4:103553456..103553460 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2019C>T (p.Tyr673=) single nucleotide variant Beta-D-mannosidosis [RCV002161435] Chr4:102636003 [GRCh38]
Chr4:103557160 [GRCh37]
Chr4:4q24		 likely benign
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del deletion Beta-D-mannosidosis [RCV002222870] Chr4:103644027..103645125 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.1302A>G (p.Ala434=) single nucleotide variant Beta-D-mannosidosis [RCV002219732]|MANBA-related condition [RCV003950977] Chr4:102668978 [GRCh38]
Chr4:103590135 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.950A>C (p.Lys317Thr) single nucleotide variant Beta-D-mannosidosis [RCV003113027] Chr4:102689584 [GRCh38]
Chr4:103610741 [GRCh37]
Chr4:4q24		 uncertain significance
NC_000004.11:g.(?_103635575)_(103635738_?)dup duplication Beta-D-mannosidosis [RCV003116456] Chr4:103635575..103635738 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.960+9G>A single nucleotide variant Beta-D-mannosidosis [RCV003116474] Chr4:102689565 [GRCh38]
Chr4:103610722 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2015-7T>C single nucleotide variant Beta-D-mannosidosis [RCV003118520] Chr4:102636014 [GRCh38]
Chr4:103557171 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.530A>G (p.His177Arg) single nucleotide variant Beta-D-mannosidosis [RCV003096116]|not specified [RCV002271819] Chr4:102722890 [GRCh38]
Chr4:103644047 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4q24(chr4:102942671-103682051)x1 copy number loss not provided [RCV002263369] Chr4:102942671..103682051 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.487G>T (p.Val163Phe) single nucleotide variant Beta-D-mannosidosis [RCV002289333] Chr4:102722933 [GRCh38]
Chr4:103644090 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1247T>G (p.Met416Arg) single nucleotide variant Beta-D-mannosidosis [RCV002302218] Chr4:102669033 [GRCh38]
Chr4:103590190 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2612A>G (p.His871Arg) single nucleotide variant not provided [RCV002308868] Chr4:102632085 [GRCh38]
Chr4:103553242 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.916del (p.Leu306fs) deletion Beta-D-mannosidosis [RCV002308599] Chr4:102689618 [GRCh38]
Chr4:103610775 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_005908.4(MANBA):c.1894A>C (p.Thr632Pro) single nucleotide variant Beta-D-mannosidosis [RCV002297265] Chr4:102639833 [GRCh38]
Chr4:103560990 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1394A>G (p.Asn465Ser) single nucleotide variant Beta-D-mannosidosis [RCV002304408] Chr4:102664776 [GRCh38]
Chr4:103585933 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.671A>G (p.Tyr224Cys) single nucleotide variant Beta-D-mannosidosis [RCV002299543] Chr4:102714440 [GRCh38]
Chr4:103635597 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.273-3del deletion Beta-D-mannosidosis [RCV002970592]|MANBA-related condition [RCV003916667] Chr4:102723970 [GRCh38]
Chr4:103645127 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_005908.4(MANBA):c.80G>A (p.Gly27Asp) single nucleotide variant Beta-D-mannosidosis [RCV002839111] Chr4:102760815 [GRCh38]
Chr4:103681972 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.177+4T>A single nucleotide variant Beta-D-mannosidosis [RCV003015181] Chr4:102760714 [GRCh38]
Chr4:103681871 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1726T>A (p.Ser576Thr) single nucleotide variant Beta-D-mannosidosis [RCV003095523] Chr4:102650680 [GRCh38]
Chr4:103571837 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.674-16T>C single nucleotide variant Beta-D-mannosidosis [RCV003074107] Chr4:102690787 [GRCh38]
Chr4:103611944 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2526T>C (p.Asn842=) single nucleotide variant Beta-D-mannosidosis [RCV002862965] Chr4:102632171 [GRCh38]
Chr4:103553328 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1140G>A (p.Val380=) single nucleotide variant Beta-D-mannosidosis [RCV003015620] Chr4:102671371 [GRCh38]
Chr4:103592528 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1668A>G (p.Gly556=) single nucleotide variant Beta-D-mannosidosis [RCV002686191] Chr4:102657718 [GRCh38]
Chr4:103578875 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2229A>C (p.Gly743=) single nucleotide variant Beta-D-mannosidosis [RCV002618636] Chr4:102634974 [GRCh38]
Chr4:103556131 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1293A>G (p.Ser431=) single nucleotide variant Beta-D-mannosidosis [RCV002881305] Chr4:102668987 [GRCh38]
Chr4:103590144 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1434C>G (p.Ile478Met) single nucleotide variant Beta-D-mannosidosis [RCV003076628] Chr4:102664736 [GRCh38]
Chr4:103585893 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1686C>T (p.Ser562=) single nucleotide variant Beta-D-mannosidosis [RCV003074693] Chr4:102657700 [GRCh38]
Chr4:103578857 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2101_2102insTGTGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGAATGAAAACA (p.Thr701delinsMetTer) insertion Beta-D-mannosidosis [RCV003013894] Chr4:102635920..102635921 [GRCh38]
Chr4:103557077..103557078 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.283A>G (p.Lys95Glu) single nucleotide variant Inborn genetic diseases [RCV002859882] Chr4:102723957 [GRCh38]
Chr4:103645114 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2536A>C (p.Met846Leu) single nucleotide variant Beta-D-mannosidosis [RCV002904767] Chr4:102632161 [GRCh38]
Chr4:103553318 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.272+13G>A single nucleotide variant Beta-D-mannosidosis [RCV002771021] Chr4:102726576 [GRCh38]
Chr4:103647733 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.484C>G (p.Gln162Glu) single nucleotide variant Beta-D-mannosidosis [RCV002618222] Chr4:102722936 [GRCh38]
Chr4:103644093 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.177+12G>C single nucleotide variant Beta-D-mannosidosis [RCV002815789] Chr4:102760706 [GRCh38]
Chr4:103681863 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1869+3A>T single nucleotide variant Inborn genetic diseases [RCV002864817] Chr4:102650534 [GRCh38]
Chr4:103571691 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.973A>G (p.Thr325Ala) single nucleotide variant Beta-D-mannosidosis [RCV003078271] Chr4:102674058 [GRCh38]
Chr4:103595215 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.9C>T (p.Leu3=) single nucleotide variant Beta-D-mannosidosis [RCV002640607] Chr4:102760886 [GRCh38]
Chr4:103682043 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1838G>T (p.Arg613Leu) single nucleotide variant Beta-D-mannosidosis [RCV002637930]|MANBA-related condition [RCV003404123] Chr4:102650568 [GRCh38]
Chr4:103571725 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2415+15T>C single nucleotide variant Beta-D-mannosidosis [RCV003054652] Chr4:102634773 [GRCh38]
Chr4:103555930 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1838G>A (p.Arg613His) single nucleotide variant Beta-D-mannosidosis [RCV002953612] Chr4:102650568 [GRCh38]
Chr4:103571725 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1255T>C (p.Cys419Arg) single nucleotide variant Beta-D-mannosidosis [RCV002593287] Chr4:102669025 [GRCh38]
Chr4:103590182 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1405A>G (p.Ile469Val) single nucleotide variant Inborn genetic diseases [RCV002704335] Chr4:102664765 [GRCh38]
Chr4:103585922 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1319T>A (p.Ile440Asn) single nucleotide variant Beta-D-mannosidosis [RCV002795942] Chr4:102664851 [GRCh38]
Chr4:103586008 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.-13_112del (p.Met1fs) deletion Beta-D-mannosidosis [RCV002796522] Chr4:102760783..102760907 [GRCh38]
Chr4:103681940..103682064 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1317+17C>T single nucleotide variant Beta-D-mannosidosis [RCV002639145] Chr4:102668946 [GRCh38]
Chr4:103590103 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1915C>T (p.Arg639Cys) single nucleotide variant Beta-D-mannosidosis [RCV002913547] Chr4:102639812 [GRCh38]
Chr4:103560969 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1517G>A (p.Ser506Asn) single nucleotide variant Beta-D-mannosidosis [RCV003002853] Chr4:102657869 [GRCh38]
Chr4:103579026 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1231-20C>G single nucleotide variant Beta-D-mannosidosis [RCV002976541] Chr4:102669069 [GRCh38]
Chr4:103590226 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.767C>G (p.Pro256Arg) single nucleotide variant Beta-D-mannosidosis [RCV003053488] Chr4:102690678 [GRCh38]
Chr4:103611835 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2244C>T (p.Cys748=) single nucleotide variant Beta-D-mannosidosis [RCV002735137] Chr4:102634959 [GRCh38]
Chr4:103556116 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1850A>C (p.Asp617Ala) single nucleotide variant Beta-D-mannosidosis [RCV002780868] Chr4:102650556 [GRCh38]
Chr4:103571713 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.37G>A (p.Gly13Ser) single nucleotide variant Beta-D-mannosidosis [RCV002823884] Chr4:102760858 [GRCh38]
Chr4:103682015 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1679G>T (p.Trp560Leu) single nucleotide variant Beta-D-mannosidosis [RCV002637848] Chr4:102657707 [GRCh38]
Chr4:103578864 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1944A>G (p.Gln648=) single nucleotide variant Beta-D-mannosidosis [RCV003078270] Chr4:102639783 [GRCh38]
Chr4:103560940 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1870-5A>T single nucleotide variant Beta-D-mannosidosis [RCV003100638] Chr4:102639862 [GRCh38]
Chr4:103561019 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.849+8A>G single nucleotide variant Beta-D-mannosidosis [RCV002619457] Chr4:102690588 [GRCh38]
Chr4:103611745 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.440C>T (p.Ala147Val) single nucleotide variant Beta-D-mannosidosis [RCV002927030]|Inborn genetic diseases [RCV002918568] Chr4:102722980 [GRCh38]
Chr4:103644137 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2179T>A (p.Ser727Thr) single nucleotide variant not provided [RCV002510103] Chr4:102635024 [GRCh38]
Chr4:103556181 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2230G>C (p.Gly744Arg) single nucleotide variant Inborn genetic diseases [RCV002798189] Chr4:102634973 [GRCh38]
Chr4:103556130 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1231-1G>A single nucleotide variant Beta-D-mannosidosis [RCV002592144] Chr4:102669050 [GRCh38]
Chr4:103590207 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.1352T>A (p.Ile451Lys) single nucleotide variant Beta-D-mannosidosis [RCV002948344] Chr4:102664818 [GRCh38]
Chr4:103585975 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2201G>C (p.Arg734Pro) single nucleotide variant Beta-D-mannosidosis [RCV002824808] Chr4:102635002 [GRCh38]
Chr4:103556159 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.997A>G (p.Ile333Val) single nucleotide variant Beta-D-mannosidosis [RCV003079618] Chr4:102674034 [GRCh38]
Chr4:103595191 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.55G>A (p.Ala19Thr) single nucleotide variant Beta-D-mannosidosis [RCV002690853] Chr4:102760840 [GRCh38]
Chr4:103681997 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1942C>A (p.Gln648Lys) single nucleotide variant Beta-D-mannosidosis [RCV002620042] Chr4:102639785 [GRCh38]
Chr4:103560942 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.987A>G (p.Ile329Met) single nucleotide variant Beta-D-mannosidosis [RCV003081166] Chr4:102674044 [GRCh38]
Chr4:103595201 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.126G>A (p.Gly42=) single nucleotide variant Beta-D-mannosidosis [RCV003100306] Chr4:102760769 [GRCh38]
Chr4:103681926 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2229A>T (p.Gly743=) single nucleotide variant Beta-D-mannosidosis [RCV002623982] Chr4:102634974 [GRCh38]
Chr4:103556131 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.427C>T (p.Arg143Cys) single nucleotide variant Beta-D-mannosidosis [RCV002612222]|Inborn genetic diseases [RCV002644019] Chr4:102722993 [GRCh38]
Chr4:103644150 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2471T>A (p.Val824Asp) single nucleotide variant Beta-D-mannosidosis [RCV002928451]|Inborn genetic diseases [RCV003250626] Chr4:102632226 [GRCh38]
Chr4:103553383 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1704+10C>T single nucleotide variant Beta-D-mannosidosis [RCV003085788] Chr4:102657672 [GRCh38]
Chr4:103578829 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.1683G>A (p.Pro561=) single nucleotide variant Beta-D-mannosidosis [RCV003085533] Chr4:102657703 [GRCh38]
Chr4:103578860 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1904A>G (p.Glu635Gly) single nucleotide variant Beta-D-mannosidosis [RCV002954441] Chr4:102639823 [GRCh38]
Chr4:103560980 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.952T>A (p.Ser318Thr) single nucleotide variant Beta-D-mannosidosis [RCV002711587] Chr4:102689582 [GRCh38]
Chr4:103610739 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1230+12A>G single nucleotide variant Beta-D-mannosidosis [RCV002741025] Chr4:102671269 [GRCh38]
Chr4:103592426 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1156_1157del (p.Thr386fs) deletion Beta-D-mannosidosis [RCV002741680] Chr4:102671354..102671355 [GRCh38]
Chr4:103592511..103592512 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1097G>C (p.Arg366Pro) single nucleotide variant Beta-D-mannosidosis [RCV003041762] Chr4:102673934 [GRCh38]
Chr4:103595091 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.674-17T>C single nucleotide variant Beta-D-mannosidosis [RCV002876238] Chr4:102690788 [GRCh38]
Chr4:103611945 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.673+18A>G single nucleotide variant Beta-D-mannosidosis [RCV003007499] Chr4:102714420 [GRCh38]
Chr4:103635577 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1649del (p.Arg550fs) deletion Beta-D-mannosidosis [RCV002928622] Chr4:102657737 [GRCh38]
Chr4:103578894 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1376A>T (p.Glu459Val) single nucleotide variant Beta-D-mannosidosis [RCV003022842] Chr4:102664794 [GRCh38]
Chr4:103585951 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2158-17G>A single nucleotide variant Beta-D-mannosidosis [RCV002741485] Chr4:102635062 [GRCh38]
Chr4:103556219 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1689C>T (p.Phe563=) single nucleotide variant Beta-D-mannosidosis [RCV002574587] Chr4:102657697 [GRCh38]
Chr4:103578854 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1188G>A (p.Glu396=) single nucleotide variant Beta-D-mannosidosis [RCV002625829] Chr4:102671323 [GRCh38]
Chr4:103592480 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1764C>T (p.His588=) single nucleotide variant Beta-D-mannosidosis [RCV003082617] Chr4:102650642 [GRCh38]
Chr4:103571799 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2405C>T (p.Ala802Val) single nucleotide variant Beta-D-mannosidosis [RCV003058985] Chr4:102634798 [GRCh38]
Chr4:103555955 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2158-7T>A single nucleotide variant Beta-D-mannosidosis [RCV002642313] Chr4:102635052 [GRCh38]
Chr4:103556209 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.683C>T (p.Ala228Val) single nucleotide variant Beta-D-mannosidosis [RCV002595325] Chr4:102690762 [GRCh38]
Chr4:103611919 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.106G>A (p.Gly36Ser) single nucleotide variant Beta-D-mannosidosis [RCV002664181] Chr4:102760789 [GRCh38]
Chr4:103681946 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1947G>A (p.Gly649=) single nucleotide variant Beta-D-mannosidosis [RCV002624848] Chr4:102639780 [GRCh38]
Chr4:103560937 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.958A>C (p.Lys320Gln) single nucleotide variant Beta-D-mannosidosis [RCV003025658] Chr4:102689576 [GRCh38]
Chr4:103610733 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2388C>T (p.Ala796=) single nucleotide variant Beta-D-mannosidosis [RCV003061300] Chr4:102634815 [GRCh38]
Chr4:103555972 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1724G>A (p.Trp575Ter) single nucleotide variant Beta-D-mannosidosis [RCV003031920] Chr4:102650682 [GRCh38]
Chr4:103571839 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.396C>T (p.Asn132=) single nucleotide variant Beta-D-mannosidosis [RCV002581585] Chr4:102723024 [GRCh38]
Chr4:103644181 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_005908.4(MANBA):c.1534G>T (p.Glu512Ter) single nucleotide variant Beta-D-mannosidosis [RCV002966964] Chr4:102657852 [GRCh38]
Chr4:103579009 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.295A>G (p.Ile99Val) single nucleotide variant Beta-D-mannosidosis [RCV003060585] Chr4:102723945 [GRCh38]
Chr4:103645102 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1905A>G (p.Glu635=) single nucleotide variant Beta-D-mannosidosis [RCV002857335] Chr4:102639822 [GRCh38]
Chr4:103560979 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2556T>A (p.Thr852=) single nucleotide variant Beta-D-mannosidosis [RCV002628507] Chr4:102632141 [GRCh38]
Chr4:103553298 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.42A>G (p.Ala14=) single nucleotide variant Beta-D-mannosidosis [RCV002899270] Chr4:102760853 [GRCh38]
Chr4:103682010 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.249A>G (p.Glu83=) single nucleotide variant Beta-D-mannosidosis [RCV002877263] Chr4:102726612 [GRCh38]
Chr4:103647769 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.897T>G (p.Thr299=) single nucleotide variant Beta-D-mannosidosis [RCV003089293] Chr4:102689637 [GRCh38]
Chr4:103610794 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1118G>A (p.Arg373Gln) single nucleotide variant Beta-D-mannosidosis [RCV002597890] Chr4:102671393 [GRCh38]
Chr4:103592550 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1485+18A>G single nucleotide variant Beta-D-mannosidosis [RCV002598627] Chr4:102664667 [GRCh38]
Chr4:103585824 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2042A>G (p.His681Arg) single nucleotide variant Beta-D-mannosidosis [RCV003011504] Chr4:102635980 [GRCh38]
Chr4:103557137 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1230+17A>G single nucleotide variant Beta-D-mannosidosis [RCV003089493] Chr4:102671264 [GRCh38]
Chr4:103592421 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2577G>A (p.Glu859=) single nucleotide variant Beta-D-mannosidosis [RCV002630969] Chr4:102632120 [GRCh38]
Chr4:103553277 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.110C>T (p.Ser37Leu) single nucleotide variant Beta-D-mannosidosis [RCV003026896] Chr4:102760785 [GRCh38]
Chr4:103681942 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.280C>A (p.Gln94Lys) single nucleotide variant Beta-D-mannosidosis [RCV003090543] Chr4:102723960 [GRCh38]
Chr4:103645117 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.673+6C>A single nucleotide variant Beta-D-mannosidosis [RCV002580767] Chr4:102714432 [GRCh38]
Chr4:103635589 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.415T>C (p.Ser139Pro) single nucleotide variant Beta-D-mannosidosis [RCV002599608] Chr4:102723005 [GRCh38]
Chr4:103644162 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1830T>A (p.Asp610Glu) single nucleotide variant Beta-D-mannosidosis [RCV002646075] Chr4:102650576 [GRCh38]
Chr4:103571733 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1550C>T (p.Ala517Val) single nucleotide variant Beta-D-mannosidosis [RCV002770789] Chr4:102657836 [GRCh38]
Chr4:103578993 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2311G>A (p.Val771Ile) single nucleotide variant Beta-D-mannosidosis [RCV002602548] Chr4:102634892 [GRCh38]
Chr4:103556049 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.63_64del (p.Ser22fs) deletion Beta-D-mannosidosis [RCV003060535] Chr4:102760831..102760832 [GRCh38]
Chr4:103681988..103681989 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.811G>T (p.Gly271Trp) single nucleotide variant Beta-D-mannosidosis [RCV003060537] Chr4:102690634 [GRCh38]
Chr4:103611791 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.398T>C (p.Val133Ala) single nucleotide variant Inborn genetic diseases [RCV002919837] Chr4:102723022 [GRCh38]
Chr4:103644179 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1695A>G (p.Thr565=) single nucleotide variant Beta-D-mannosidosis [RCV003061287] Chr4:102657691 [GRCh38]
Chr4:103578848 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1589A>G (p.Asp530Gly) single nucleotide variant Beta-D-mannosidosis [RCV002654803] Chr4:102657797 [GRCh38]
Chr4:103578954 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.154T>A (p.Leu52Met) single nucleotide variant Inborn genetic diseases [RCV002944915] Chr4:102760741 [GRCh38]
Chr4:103681898 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.239A>G (p.Tyr80Cys) single nucleotide variant Beta-D-mannosidosis [RCV003093319] Chr4:102726622 [GRCh38]
Chr4:103647779 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1829A>C (p.Asp610Ala) single nucleotide variant Beta-D-mannosidosis [RCV002942210] Chr4:102650577 [GRCh38]
Chr4:103571734 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.822T>C (p.Ile274=) single nucleotide variant Beta-D-mannosidosis [RCV003069343] Chr4:102690623 [GRCh38]
Chr4:103611780 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2488T>C (p.Leu830=) single nucleotide variant Beta-D-mannosidosis [RCV002587620] Chr4:102632209 [GRCh38]
Chr4:103553366 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1223G>T (p.Gly408Val) single nucleotide variant Beta-D-mannosidosis [RCV002609448] Chr4:102671288 [GRCh38]
Chr4:103592445 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.673+12G>A single nucleotide variant Beta-D-mannosidosis [RCV003072678] Chr4:102714426 [GRCh38]
Chr4:103635583 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1231-14A>G single nucleotide variant Beta-D-mannosidosis [RCV003070459] Chr4:102669063 [GRCh38]
Chr4:103590220 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1153_1162del (p.Asn385fs) deletion Beta-D-mannosidosis [RCV002725655] Chr4:102671349..102671358 [GRCh38]
Chr4:103592506..103592515 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2103G>A (p.Thr701=) single nucleotide variant Beta-D-mannosidosis [RCV002587973] Chr4:102635919 [GRCh38]
Chr4:103557076 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2561T>C (p.Leu854Ser) single nucleotide variant Beta-D-mannosidosis [RCV002608906] Chr4:102632136 [GRCh38]
Chr4:103553293 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2356A>G (p.Asn786Asp) single nucleotide variant Beta-D-mannosidosis [RCV003072263] Chr4:102634847 [GRCh38]
Chr4:103556004 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1696T>G (p.Leu566Val) single nucleotide variant Beta-D-mannosidosis [RCV002612345] Chr4:102657690 [GRCh38]
Chr4:103578847 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.2144C>T (p.Ser715Leu) single nucleotide variant Beta-D-mannosidosis [RCV002588113] Chr4:102635878 [GRCh38]
Chr4:103557035 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.10C>T (p.His4Tyr) single nucleotide variant Beta-D-mannosidosis [RCV002612537] Chr4:102760885 [GRCh38]
Chr4:103682042 [GRCh37]
Chr4:4q24		 uncertain significance
NC_000004.11:g.(?_101947022)_(107268849_?)dup duplication not provided [RCV003154901] Chr4:101947022..107268849 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1736G>A (p.Ser579Asn) single nucleotide variant Inborn genetic diseases [RCV003193335] Chr4:102650670 [GRCh38]
Chr4:103571827 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1498C>T (p.Arg500Cys) single nucleotide variant Inborn genetic diseases [RCV003191098] Chr4:102657888 [GRCh38]
Chr4:103579045 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1223G>A (p.Gly408Glu) single nucleotide variant Inborn genetic diseases [RCV003198264] Chr4:102671288 [GRCh38]
Chr4:103592445 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.273-1G>A single nucleotide variant Beta-D-mannosidosis [RCV003226772] Chr4:102723968 [GRCh38]
Chr4:103645125 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.1280G>A (p.Gly427Asp) single nucleotide variant not provided [RCV003329635] Chr4:102669000 [GRCh38]
Chr4:103590157 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.781C>T (p.Gln261Ter) single nucleotide variant Beta-D-mannosidosis [RCV003874596] Chr4:102690664 [GRCh38]
Chr4:103611821 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.549+8T>C single nucleotide variant Beta-D-mannosidosis [RCV003874494] Chr4:102722863 [GRCh38]
Chr4:103644020 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1 copy number loss not provided [RCV003485432] Chr4:100542119..103793167 [GRCh37]
Chr4:4q23-24		 pathogenic
NM_005908.4(MANBA):c.2265T>C (p.Ser755=) single nucleotide variant Beta-D-mannosidosis [RCV003873124] Chr4:102634938 [GRCh38]
Chr4:103556095 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.120G>A (p.Leu40=) single nucleotide variant Beta-D-mannosidosis [RCV003880838] Chr4:102760775 [GRCh38]
Chr4:103681932 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.210_213delinsTCTGTAGTTAAGAGAACCCATCTG (p.Arg71delinsLeuTer) indel MANBA-related condition [RCV003404479] Chr4:102726648..102726651 [GRCh38]
Chr4:103647805..103647808 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.510T>A (p.Leu170=) single nucleotide variant Beta-D-mannosidosis [RCV003825539] Chr4:102722910 [GRCh38]
Chr4:103644067 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.691T>A (p.Trp231Arg) single nucleotide variant not provided [RCV003443843] Chr4:102690754 [GRCh38]
Chr4:103611911 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter) single nucleotide variant Beta-D-mannosidosis [RCV003498005]|MANBA-related condition [RCV003429116] Chr4:102657763 [GRCh38]
Chr4:103578920 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_005908.4(MANBA):c.210_213delinsTCTGTAGTTAAGAGACCCATCTG (p.Arg71delinsLeuTer) indel MANBA-related condition [RCV003404307] Chr4:102726648..102726651 [GRCh38]
Chr4:103647805..103647808 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.677del (p.Lys226fs) deletion Beta-D-mannosidosis [RCV003602288] Chr4:102690768 [GRCh38]
Chr4:103611925 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1881C>G (p.Ala627=) single nucleotide variant Beta-D-mannosidosis [RCV003600165] Chr4:102639846 [GRCh38]
Chr4:103561003 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1704+12T>A single nucleotide variant Beta-D-mannosidosis [RCV003602507] Chr4:102657670 [GRCh38]
Chr4:103578827 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2015-11del deletion Beta-D-mannosidosis [RCV003602506] Chr4:102636018 [GRCh38]
Chr4:103557175 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1446G>A (p.Val482=) single nucleotide variant Beta-D-mannosidosis [RCV003602543] Chr4:102664724 [GRCh38]
Chr4:103585881 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1239G>A (p.Gln413=) single nucleotide variant Beta-D-mannosidosis [RCV003602270] Chr4:102669041 [GRCh38]
Chr4:103590198 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2472C>A (p.Val824=) single nucleotide variant Beta-D-mannosidosis [RCV003602309] Chr4:102632225 [GRCh38]
Chr4:103553382 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.885T>C (p.His295=) single nucleotide variant Beta-D-mannosidosis [RCV003602332] Chr4:102689649 [GRCh38]
Chr4:103610806 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.850-18T>G single nucleotide variant Beta-D-mannosidosis [RCV003601581] Chr4:102689702 [GRCh38]
Chr4:103610859 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.936C>T (p.Gly312=) single nucleotide variant Beta-D-mannosidosis [RCV003600048] Chr4:102689598 [GRCh38]
Chr4:103610755 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.177+14C>A single nucleotide variant Beta-D-mannosidosis [RCV003600075] Chr4:102760704 [GRCh38]
Chr4:103681861 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1872G>A (p.Val624=) single nucleotide variant Beta-D-mannosidosis [RCV003601306] Chr4:102639855 [GRCh38]
Chr4:103561012 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.549+18A>G single nucleotide variant Beta-D-mannosidosis [RCV003849259] Chr4:102722853 [GRCh38]
Chr4:103644010 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1992A>G (p.Gln664=) single nucleotide variant Beta-D-mannosidosis [RCV003600247] Chr4:102639735 [GRCh38]
Chr4:103560892 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.673+1G>A single nucleotide variant Beta-D-mannosidosis [RCV003601553] Chr4:102714437 [GRCh38]
Chr4:103635594 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.2415+14A>T single nucleotide variant Beta-D-mannosidosis [RCV003601557] Chr4:102634774 [GRCh38]
Chr4:103555931 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2333_2334del (p.Asp778fs) deletion Beta-D-mannosidosis [RCV003600649] Chr4:102634869..102634870 [GRCh38]
Chr4:103556026..103556027 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.272+16G>C single nucleotide variant Beta-D-mannosidosis [RCV003601740] Chr4:102726573 [GRCh38]
Chr4:103647730 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.891C>T (p.Asn297=) single nucleotide variant Beta-D-mannosidosis [RCV003601616] Chr4:102689643 [GRCh38]
Chr4:103610800 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1962A>G (p.Ala654=) single nucleotide variant Beta-D-mannosidosis [RCV003600662] Chr4:102639765 [GRCh38]
Chr4:103560922 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2416-19T>C single nucleotide variant Beta-D-mannosidosis [RCV003600737] Chr4:102632300 [GRCh38]
Chr4:103553457 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1086A>G (p.Ser362=) single nucleotide variant Beta-D-mannosidosis [RCV003602492] Chr4:102673945 [GRCh38]
Chr4:103595102 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.273-11_273-7del microsatellite Beta-D-mannosidosis [RCV003600753] Chr4:102723974..102723978 [GRCh38]
Chr4:103645131..103645135 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2181C>G (p.Ser727=) single nucleotide variant Beta-D-mannosidosis [RCV003601702] Chr4:102635022 [GRCh38]
Chr4:103556179 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1800A>G (p.Gly600=) single nucleotide variant Beta-D-mannosidosis [RCV003601713] Chr4:102650606 [GRCh38]
Chr4:103571763 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.378+19T>C single nucleotide variant Beta-D-mannosidosis [RCV003602508] Chr4:102723843 [GRCh38]
Chr4:103645000 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1926C>T (p.Ser642=) single nucleotide variant Beta-D-mannosidosis [RCV003878246] Chr4:102639801 [GRCh38]
Chr4:103560958 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.441G>A (p.Ala147=) single nucleotide variant Beta-D-mannosidosis [RCV003601882] Chr4:102722979 [GRCh38]
Chr4:103644136 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.774G>A (p.Leu258=) single nucleotide variant Beta-D-mannosidosis [RCV003601886] Chr4:102690671 [GRCh38]
Chr4:103611828 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2553A>G (p.Arg851=) single nucleotide variant Beta-D-mannosidosis [RCV003602117] Chr4:102632144 [GRCh38]
Chr4:103553301 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2244C>A (p.Cys748Ter) single nucleotide variant Beta-D-mannosidosis [RCV003602123] Chr4:102634959 [GRCh38]
Chr4:103556116 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.309G>A (p.Val103=) single nucleotide variant Beta-D-mannosidosis [RCV003602002] Chr4:102723931 [GRCh38]
Chr4:103645088 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1581T>C (p.Tyr527=) single nucleotide variant Beta-D-mannosidosis [RCV003602526] Chr4:102657805 [GRCh38]
Chr4:103578962 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1705-17T>C single nucleotide variant Beta-D-mannosidosis [RCV003601050] Chr4:102650718 [GRCh38]
Chr4:103571875 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.102G>C (p.Gly34=) single nucleotide variant Beta-D-mannosidosis [RCV003601345] Chr4:102760793 [GRCh38]
Chr4:103681950 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.177+7C>G single nucleotide variant Beta-D-mannosidosis [RCV003600006] Chr4:102760711 [GRCh38]
Chr4:103681868 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2161A>T (p.Arg721Ter) single nucleotide variant Beta-D-mannosidosis [RCV003600012] Chr4:102635042 [GRCh38]
Chr4:103556199 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1480C>T (p.Leu494=) single nucleotide variant Beta-D-mannosidosis [RCV003599996] Chr4:102664690 [GRCh38]
Chr4:103585847 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.759A>C (p.Val253=) single nucleotide variant Beta-D-mannosidosis [RCV003601334] Chr4:102690686 [GRCh38]
Chr4:103611843 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1257T>C (p.Cys419=) single nucleotide variant Beta-D-mannosidosis [RCV003601973] Chr4:102669023 [GRCh38]
Chr4:103590180 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.135T>G (p.Pro45=) single nucleotide variant Beta-D-mannosidosis [RCV003602120] Chr4:102760760 [GRCh38]
Chr4:103681917 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1486-15T>C single nucleotide variant Beta-D-mannosidosis [RCV003601357] Chr4:102657915 [GRCh38]
Chr4:103579072 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1734T>C (p.Asn578=) single nucleotide variant Beta-D-mannosidosis [RCV003602541] Chr4:102650672 [GRCh38]
Chr4:103571829 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.273-11C>G single nucleotide variant Beta-D-mannosidosis [RCV003600689] Chr4:102723978 [GRCh38]
Chr4:103645135 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.210C>T (p.Tyr70=) single nucleotide variant Beta-D-mannosidosis [RCV003601251] Chr4:102726651 [GRCh38]
Chr4:103647808 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.178-2A>G single nucleotide variant Beta-D-mannosidosis [RCV003600149] Chr4:102726685 [GRCh38]
Chr4:103647842 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.177+19C>G single nucleotide variant Beta-D-mannosidosis [RCV003600166] Chr4:102760699 [GRCh38]
Chr4:103681856 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.378+17A>G single nucleotide variant Beta-D-mannosidosis [RCV003600907] Chr4:102723845 [GRCh38]
Chr4:103645002 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2511G>A (p.Gly837=) single nucleotide variant Beta-D-mannosidosis [RCV003601277] Chr4:102632186 [GRCh38]
Chr4:103553343 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2433A>G (p.Gln811=) single nucleotide variant Beta-D-mannosidosis [RCV003600120] Chr4:102632264 [GRCh38]
Chr4:103553421 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1705-2A>G single nucleotide variant Beta-D-mannosidosis [RCV003600978] Chr4:102650703 [GRCh38]
Chr4:103571860 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.1733del (p.Asn578fs) deletion Beta-D-mannosidosis [RCV003600894] Chr4:102650673 [GRCh38]
Chr4:103571830 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1704+11G>A single nucleotide variant Beta-D-mannosidosis [RCV003600989] Chr4:102657671 [GRCh38]
Chr4:103578828 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1959G>A (p.Gly653=) single nucleotide variant Beta-D-mannosidosis [RCV003601608] Chr4:102639768 [GRCh38]
Chr4:103560925 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter) single nucleotide variant Beta-D-mannosidosis [RCV003601035] Chr4:102657738 [GRCh38]
Chr4:103578895 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.13C>T (p.Leu5=) single nucleotide variant Beta-D-mannosidosis [RCV003600575] Chr4:102760882 [GRCh38]
Chr4:103682039 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.379-14T>C single nucleotide variant Beta-D-mannosidosis [RCV003825903] Chr4:102723055 [GRCh38]
Chr4:103644212 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1422_1477dup (p.Val493delinsGlyGlnSerThrSerArgThrMetTer) duplication Beta-D-mannosidosis [RCV003601099] Chr4:102664692..102664693 [GRCh38]
Chr4:103585849..103585850 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1113-6C>T single nucleotide variant Beta-D-mannosidosis [RCV003600548] Chr4:102671404 [GRCh38]
Chr4:103592561 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.177+20C>T single nucleotide variant Beta-D-mannosidosis [RCV003601142] Chr4:102760698 [GRCh38]
Chr4:103681855 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter) single nucleotide variant Beta-D-mannosidosis [RCV003601309] Chr4:102669045 [GRCh38]
Chr4:103590202 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.15G>A (p.Leu5=) single nucleotide variant Beta-D-mannosidosis [RCV003601797] Chr4:102760880 [GRCh38]
Chr4:103682037 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.681T>C (p.Ser227=) single nucleotide variant Beta-D-mannosidosis [RCV003600740] Chr4:102690764 [GRCh38]
Chr4:103611921 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.51C>A (p.Thr17=) single nucleotide variant Beta-D-mannosidosis [RCV003601409]|MANBA-related condition [RCV003909072] Chr4:102760844 [GRCh38]
Chr4:103682001 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.357A>T (p.Thr119=) single nucleotide variant Beta-D-mannosidosis [RCV003601651] Chr4:102723883 [GRCh38]
Chr4:103645040 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1705-14T>C single nucleotide variant Beta-D-mannosidosis [RCV003600775] Chr4:102650715 [GRCh38]
Chr4:103571872 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2145G>A (p.Ser715=) single nucleotide variant Beta-D-mannosidosis [RCV003601317] Chr4:102635877 [GRCh38]
Chr4:103557034 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2154C>G (p.Leu718=) single nucleotide variant Beta-D-mannosidosis [RCV003601946] Chr4:102635868 [GRCh38]
Chr4:103557025 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1002A>G (p.Lys334=) single nucleotide variant Beta-D-mannosidosis [RCV003600508] Chr4:102674029 [GRCh38]
Chr4:103595186 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.735G>A (p.Lys245=) single nucleotide variant Beta-D-mannosidosis [RCV003600543] Chr4:102690710 [GRCh38]
Chr4:103611867 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1839C>T (p.Arg613=) single nucleotide variant Beta-D-mannosidosis [RCV003600549] Chr4:102650567 [GRCh38]
Chr4:103571724 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.178-12T>C single nucleotide variant Beta-D-mannosidosis [RCV003601113] Chr4:102726695 [GRCh38]
Chr4:103647852 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1312del (p.Tyr438fs) deletion Beta-D-mannosidosis [RCV003601114] Chr4:102668968 [GRCh38]
Chr4:103590125 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2014+8T>C single nucleotide variant Beta-D-mannosidosis [RCV003601358] Chr4:102639705 [GRCh38]
Chr4:103560862 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.547A>T (p.Lys183Ter) single nucleotide variant Beta-D-mannosidosis [RCV003599979] Chr4:102722873 [GRCh38]
Chr4:103644030 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1473G>A (p.Glu491=) single nucleotide variant Beta-D-mannosidosis [RCV003600001] Chr4:102664697 [GRCh38]
Chr4:103585854 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2190C>T (p.Pro730=) single nucleotide variant Beta-D-mannosidosis [RCV003601209] Chr4:102635013 [GRCh38]
Chr4:103556170 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2158-6C>G single nucleotide variant Beta-D-mannosidosis [RCV003599944] Chr4:102635051 [GRCh38]
Chr4:103556208 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1128A>G (p.Leu376=) single nucleotide variant Beta-D-mannosidosis [RCV003600747] Chr4:102671383 [GRCh38]
Chr4:103592540 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.379-16G>T single nucleotide variant Beta-D-mannosidosis [RCV003601855] Chr4:102723057 [GRCh38]
Chr4:103644214 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1878G>A (p.Gln626=) single nucleotide variant Beta-D-mannosidosis [RCV003601866] Chr4:102639849 [GRCh38]
Chr4:103561006 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1231-6T>G single nucleotide variant Beta-D-mannosidosis [RCV003600155] Chr4:102669055 [GRCh38]
Chr4:103590212 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2157+9C>T single nucleotide variant Beta-D-mannosidosis [RCV003600654] Chr4:102635856 [GRCh38]
Chr4:103557013 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2193G>A (p.Val731=) single nucleotide variant Beta-D-mannosidosis [RCV003601060] Chr4:102635010 [GRCh38]
Chr4:103556167 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.84C>T (p.Asn28=) single nucleotide variant Beta-D-mannosidosis [RCV003602069] Chr4:102760811 [GRCh38]
Chr4:103681968 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.673+17G>A single nucleotide variant Beta-D-mannosidosis [RCV003602227] Chr4:102714421 [GRCh38]
Chr4:103635578 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.54C>T (p.Ala18=) single nucleotide variant Beta-D-mannosidosis [RCV003602347] Chr4:102760841 [GRCh38]
Chr4:103681998 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1869+20G>A single nucleotide variant Beta-D-mannosidosis [RCV003600801] Chr4:102650517 [GRCh38]
Chr4:103571674 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.873G>A (p.Trp291Ter) single nucleotide variant Beta-D-mannosidosis [RCV003602370] Chr4:102689661 [GRCh38]
Chr4:103610818 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1176A>C (p.Gly392=) single nucleotide variant Beta-D-mannosidosis [RCV003600276] Chr4:102671335 [GRCh38]
Chr4:103592492 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1230+13T>C single nucleotide variant Beta-D-mannosidosis [RCV003600768] Chr4:102671268 [GRCh38]
Chr4:103592425 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2176A>T (p.Ser726Cys) single nucleotide variant Beta-D-mannosidosis [RCV003601690] Chr4:102635027 [GRCh38]
Chr4:103556184 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1854C>T (p.Thr618=) single nucleotide variant Beta-D-mannosidosis [RCV003602257] Chr4:102650552 [GRCh38]
Chr4:103571709 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1231-16T>G single nucleotide variant Beta-D-mannosidosis [RCV003602295] Chr4:102669065 [GRCh38]
Chr4:103590222 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.674-7A>G single nucleotide variant Beta-D-mannosidosis [RCV003602334] Chr4:102690778 [GRCh38]
Chr4:103611935 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1143T>C (p.Asp381=) single nucleotide variant Beta-D-mannosidosis [RCV003600301] Chr4:102671368 [GRCh38]
Chr4:103592525 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2416-4T>C single nucleotide variant Beta-D-mannosidosis [RCV003600310] Chr4:102632285 [GRCh38]
Chr4:103553442 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.756C>T (p.Ile252=) single nucleotide variant Beta-D-mannosidosis [RCV003600785] Chr4:102690689 [GRCh38]
Chr4:103611846 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.225G>A (p.Leu75=) single nucleotide variant Beta-D-mannosidosis [RCV003600787] Chr4:102726636 [GRCh38]
Chr4:103647793 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.564T>C (p.Phe188=) single nucleotide variant Beta-D-mannosidosis [RCV003600872] Chr4:102714547 [GRCh38]
Chr4:103635704 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.30G>A (p.Ala10=) single nucleotide variant Beta-D-mannosidosis [RCV003601352] Chr4:102760865 [GRCh38]
Chr4:103682022 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2253G>A (p.Glu751=) single nucleotide variant Beta-D-mannosidosis [RCV003601274] Chr4:102634950 [GRCh38]
Chr4:103556107 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.780dup (p.Gln261fs) duplication Beta-D-mannosidosis [RCV003602390] Chr4:102690664..102690665 [GRCh38]
Chr4:103611821..103611822 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.54C>A (p.Ala18=) single nucleotide variant Beta-D-mannosidosis [RCV003602160] Chr4:102760841 [GRCh38]
Chr4:103681998 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.177+7C>A single nucleotide variant Beta-D-mannosidosis [RCV003601397] Chr4:102760711 [GRCh38]
Chr4:103681868 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1169G>A (p.Trp390Ter) single nucleotide variant Beta-D-mannosidosis [RCV003602175] Chr4:102671342 [GRCh38]
Chr4:103592499 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2057del (p.Asn686fs) deletion Beta-D-mannosidosis [RCV003602419] Chr4:102635965 [GRCh38]
Chr4:103557122 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2352G>T (p.Pro784=) single nucleotide variant Beta-D-mannosidosis [RCV003600883] Chr4:102634851 [GRCh38]
Chr4:103556008 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2158-5C>T single nucleotide variant Beta-D-mannosidosis [RCV003600945] Chr4:102635050 [GRCh38]
Chr4:103556207 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1553G>A (p.Trp518Ter) single nucleotide variant Beta-D-mannosidosis [RCV003602185] Chr4:102657833 [GRCh38]
Chr4:103578990 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1383G>A (p.Ala461=) single nucleotide variant Beta-D-mannosidosis [RCV003602019] Chr4:102664787 [GRCh38]
Chr4:103585944 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.961-16A>C single nucleotide variant Beta-D-mannosidosis [RCV003602198] Chr4:102674086 [GRCh38]
Chr4:103595243 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.27C>A (p.Leu9=) single nucleotide variant Beta-D-mannosidosis [RCV003600018] Chr4:102760868 [GRCh38]
Chr4:103682025 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1551C>T (p.Ala517=) single nucleotide variant Beta-D-mannosidosis [RCV003601356] Chr4:102657835 [GRCh38]
Chr4:103578992 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.828G>A (p.Glu276=) single nucleotide variant Beta-D-mannosidosis [RCV003601738] Chr4:102690617 [GRCh38]
Chr4:103611774 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.540T>C (p.Phe180=) single nucleotide variant Beta-D-mannosidosis [RCV003602468] Chr4:102722880 [GRCh38]
Chr4:103644037 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.489T>C (p.Val163=) single nucleotide variant Beta-D-mannosidosis [RCV003599993] Chr4:102722931 [GRCh38]
Chr4:103644088 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1551C>G (p.Ala517=) single nucleotide variant Beta-D-mannosidosis [RCV003601742] Chr4:102657835 [GRCh38]
Chr4:103578992 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2355C>T (p.Thr785=) single nucleotide variant Beta-D-mannosidosis [RCV003602130] Chr4:102634848 [GRCh38]
Chr4:103556005 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2158-6C>T single nucleotide variant Beta-D-mannosidosis [RCV003878435] Chr4:102635051 [GRCh38]
Chr4:103556208 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.480C>T (p.Arg160=) single nucleotide variant Beta-D-mannosidosis [RCV003601376] Chr4:102722940 [GRCh38]
Chr4:103644097 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1584T>C (p.Phe528=) single nucleotide variant Beta-D-mannosidosis [RCV003601810] Chr4:102657802 [GRCh38]
Chr4:103578959 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1561C>T (p.Gln521Ter) single nucleotide variant Beta-D-mannosidosis [RCV003602259] Chr4:102657825 [GRCh38]
Chr4:103578982 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1470del (p.Glu491fs) deletion Beta-D-mannosidosis [RCV003602501] Chr4:102664700 [GRCh38]
Chr4:103585857 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2472C>G (p.Val824=) single nucleotide variant Beta-D-mannosidosis [RCV003826582] Chr4:102632225 [GRCh38]
Chr4:103553382 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2072del (p.Leu691fs) deletion Beta-D-mannosidosis [RCV003600094] Chr4:102635950 [GRCh38]
Chr4:103557107 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2160G>A (p.Val720=) single nucleotide variant Beta-D-mannosidosis [RCV003601396] Chr4:102635043 [GRCh38]
Chr4:103556200 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2547G>A (p.Lys849=) single nucleotide variant Beta-D-mannosidosis [RCV003601439] Chr4:102632150 [GRCh38]
Chr4:103553307 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.320C>A (p.Ser107Ter) single nucleotide variant Beta-D-mannosidosis [RCV003601951] Chr4:102723920 [GRCh38]
Chr4:103645077 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2296C>A (p.Arg766=) single nucleotide variant Beta-D-mannosidosis [RCV003602529] Chr4:102634907 [GRCh38]
Chr4:103556064 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2483_2486del (p.Val828fs) microsatellite not specified [RCV003489781] Chr4:102632211..102632214 [GRCh38]
Chr4:103553368..103553371 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1704+1G>T single nucleotide variant Beta-D-mannosidosis [RCV003601155] Chr4:102657681 [GRCh38]
Chr4:103578838 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.483C>T (p.Tyr161=) single nucleotide variant Beta-D-mannosidosis [RCV003601079] Chr4:102722937 [GRCh38]
Chr4:103644094 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1116A>G (p.Leu372=) single nucleotide variant Beta-D-mannosidosis [RCV003602186] Chr4:102671395 [GRCh38]
Chr4:103592552 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.378+9A>G single nucleotide variant Beta-D-mannosidosis [RCV003600582] Chr4:102723853 [GRCh38]
Chr4:103645010 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2015-1G>A single nucleotide variant Beta-D-mannosidosis [RCV003600700] Chr4:102636008 [GRCh38]
Chr4:103557165 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.378+2T>C single nucleotide variant Beta-D-mannosidosis [RCV003600647] Chr4:102723860 [GRCh38]
Chr4:103645017 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.1794G>A (p.Gln598=) single nucleotide variant Beta-D-mannosidosis [RCV003601536] Chr4:102650612 [GRCh38]
Chr4:103571769 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1413C>T (p.Phe471=) single nucleotide variant Beta-D-mannosidosis [RCV003828349] Chr4:102664757 [GRCh38]
Chr4:103585914 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.15G>C (p.Leu5=) single nucleotide variant Beta-D-mannosidosis [RCV003879065] Chr4:102760880 [GRCh38]
Chr4:103682037 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1869+8G>A single nucleotide variant Beta-D-mannosidosis [RCV003879158] Chr4:102650529 [GRCh38]
Chr4:103571686 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.272+17G>A single nucleotide variant Beta-D-mannosidosis [RCV003827310] Chr4:102726572 [GRCh38]
Chr4:103647729 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2310G>A (p.Val770=) single nucleotide variant Beta-D-mannosidosis [RCV003832739] Chr4:102634893 [GRCh38]
Chr4:103556050 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2015-16T>G single nucleotide variant Beta-D-mannosidosis [RCV003498813] Chr4:102636023 [GRCh38]
Chr4:103557180 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1836dup (p.Arg613fs) duplication Beta-D-mannosidosis [RCV003498822] Chr4:102650569..102650570 [GRCh38]
Chr4:103571726..103571727 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2157+17G>C single nucleotide variant Beta-D-mannosidosis [RCV003498077] Chr4:102635848 [GRCh38]
Chr4:103557005 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.579G>A (p.Gly193=) single nucleotide variant Beta-D-mannosidosis [RCV003497367] Chr4:102714532 [GRCh38]
Chr4:103635689 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.674-1G>C single nucleotide variant Beta-D-mannosidosis [RCV003497457] Chr4:102690772 [GRCh38]
Chr4:103611929 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.273-3dup duplication Beta-D-mannosidosis [RCV003497427] Chr4:102723969..102723970 [GRCh38]
Chr4:103645126..103645127 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.2158-14T>G single nucleotide variant Beta-D-mannosidosis [RCV003498979] Chr4:102635059 [GRCh38]
Chr4:103556216 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.378+14G>A single nucleotide variant Beta-D-mannosidosis [RCV003498995] Chr4:102723848 [GRCh38]
Chr4:103645005 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2232A>C (p.Gly744=) single nucleotide variant Beta-D-mannosidosis [RCV003498326] Chr4:102634971 [GRCh38]
Chr4:103556128 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1164G>A (p.Arg388=) single nucleotide variant Beta-D-mannosidosis [RCV003498334] Chr4:102671347 [GRCh38]
Chr4:103592504 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2178C>T (p.Ser726=) single nucleotide variant Beta-D-mannosidosis [RCV003498376] Chr4:102635025 [GRCh38]
Chr4:103556182 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2403G>A (p.Lys801=) single nucleotide variant Beta-D-mannosidosis [RCV003498379] Chr4:102634800 [GRCh38]
Chr4:103555957 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1486-13T>C single nucleotide variant Beta-D-mannosidosis [RCV003499241] Chr4:102657913 [GRCh38]
Chr4:103579070 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.921T>C (p.Phe307=) single nucleotide variant Beta-D-mannosidosis [RCV003499294] Chr4:102689613 [GRCh38]
Chr4:103610770 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.549+7G>A single nucleotide variant Beta-D-mannosidosis [RCV003498409] Chr4:102722864 [GRCh38]
Chr4:103644021 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1593A>G (p.Val531=) single nucleotide variant Beta-D-mannosidosis [RCV003498940] Chr4:102657793 [GRCh38]
Chr4:103578950 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.51C>T (p.Thr17=) single nucleotide variant Beta-D-mannosidosis [RCV003498947] Chr4:102760844 [GRCh38]
Chr4:103682001 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.843T>C (p.Ile281=) single nucleotide variant Beta-D-mannosidosis [RCV003497627] Chr4:102690602 [GRCh38]
Chr4:103611759 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.850-10T>C single nucleotide variant Beta-D-mannosidosis [RCV003498461] Chr4:102689694 [GRCh38]
Chr4:103610851 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.850-19T>C single nucleotide variant Beta-D-mannosidosis [RCV003498907] Chr4:102689703 [GRCh38]
Chr4:103610860 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1318-13T>C single nucleotide variant Beta-D-mannosidosis [RCV003499064] Chr4:102664865 [GRCh38]
Chr4:103586022 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.177+18C>T single nucleotide variant Beta-D-mannosidosis [RCV003498563] Chr4:102760700 [GRCh38]
Chr4:103681857 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.33G>A (p.Leu11=) single nucleotide variant Beta-D-mannosidosis [RCV003498644] Chr4:102760862 [GRCh38]
Chr4:103682019 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1395T>C (p.Asn465=) single nucleotide variant Beta-D-mannosidosis [RCV003498653] Chr4:102664775 [GRCh38]
Chr4:103585932 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2158-9T>A single nucleotide variant Beta-D-mannosidosis [RCV003498142] Chr4:102635054 [GRCh38]
Chr4:103556211 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1563A>G (p.Gln521=) single nucleotide variant Beta-D-mannosidosis [RCV003498042] Chr4:102657823 [GRCh38]
Chr4:103578980 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1453dup (p.Tyr485fs) duplication Beta-D-mannosidosis [RCV003498838] Chr4:102664716..102664717 [GRCh38]
Chr4:103585873..103585874 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.378+15A>C single nucleotide variant Beta-D-mannosidosis [RCV003498694] Chr4:102723847 [GRCh38]
Chr4:103645004 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1318-9A>C single nucleotide variant Beta-D-mannosidosis [RCV003499178] Chr4:102664861 [GRCh38]
Chr4:103586018 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1737C>T (p.Ser579=) single nucleotide variant Beta-D-mannosidosis [RCV003499180] Chr4:102650669 [GRCh38]
Chr4:103571826 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.549+20G>A single nucleotide variant Beta-D-mannosidosis [RCV003499632] Chr4:102722851 [GRCh38]
Chr4:103644008 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1318-19_1318-18del deletion Beta-D-mannosidosis [RCV003499641] Chr4:102664870..102664871 [GRCh38]
Chr4:103586027..103586028 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.273-9T>C single nucleotide variant Beta-D-mannosidosis [RCV003499737] Chr4:102723976 [GRCh38]
Chr4:103645133 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.102G>A (p.Gly34=) single nucleotide variant Beta-D-mannosidosis [RCV003499826] Chr4:102760793 [GRCh38]
Chr4:103681950 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.360C>T (p.Asp120=) single nucleotide variant Beta-D-mannosidosis [RCV003849900] Chr4:102723880 [GRCh38]
Chr4:103645037 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1638C>T (p.Phe546=) single nucleotide variant Beta-D-mannosidosis [RCV003497525] Chr4:102657748 [GRCh38]
Chr4:103578905 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2158-10T>G single nucleotide variant Beta-D-mannosidosis [RCV003497506] Chr4:102635055 [GRCh38]
Chr4:103556212 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1557C>T (p.Val519=) single nucleotide variant Beta-D-mannosidosis [RCV003498537] Chr4:102657829 [GRCh38]
Chr4:103578986 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2015-12G>T single nucleotide variant Beta-D-mannosidosis [RCV003498656] Chr4:102636019 [GRCh38]
Chr4:103557176 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2157+19T>A single nucleotide variant Beta-D-mannosidosis [RCV003832233] Chr4:102635846 [GRCh38]
Chr4:103557003 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.243C>T (p.Ser81=) single nucleotide variant Beta-D-mannosidosis [RCV003498821] Chr4:102726618 [GRCh38]
Chr4:103647775 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.674-6T>A single nucleotide variant Beta-D-mannosidosis [RCV003498893] Chr4:102690777 [GRCh38]
Chr4:103611934 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1098A>G (p.Arg366=) single nucleotide variant Beta-D-mannosidosis [RCV003498866] Chr4:102673933 [GRCh38]
Chr4:103595090 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1230+14A>G single nucleotide variant Beta-D-mannosidosis [RCV003499019] Chr4:102671267 [GRCh38]
Chr4:103592424 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1581T>A (p.Tyr527Ter) single nucleotide variant Beta-D-mannosidosis [RCV003856341] Chr4:102657805 [GRCh38]
Chr4:103578962 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.408C>T (p.Asp136=) single nucleotide variant Beta-D-mannosidosis [RCV003499141] Chr4:102723012 [GRCh38]
Chr4:103644169 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2241C>T (p.Val747=) single nucleotide variant Beta-D-mannosidosis [RCV003499415] Chr4:102634962 [GRCh38]
Chr4:103556119 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.162G>A (p.Gln54=) single nucleotide variant Beta-D-mannosidosis [RCV003498411] Chr4:102760733 [GRCh38]
Chr4:103681890 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1101_1111del (p.Thr368fs) deletion Beta-D-mannosidosis [RCV003498613] Chr4:102673920..102673930 [GRCh38]
Chr4:103595077..103595087 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.397G>A (p.Val133Met) single nucleotide variant Beta-D-mannosidosis [RCV003499800]|MANBA-related condition [RCV003980997] Chr4:102723023 [GRCh38]
Chr4:103644180 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2102_2103insAT (p.Phe702fs) insertion Beta-D-mannosidosis [RCV003498962] Chr4:102635919..102635920 [GRCh38]
Chr4:103557076..103557077 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1653T>C (p.Phe551=) single nucleotide variant Beta-D-mannosidosis [RCV003498959] Chr4:102657733 [GRCh38]
Chr4:103578890 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1234dup (p.Trp412fs) duplication Beta-D-mannosidosis [RCV003499250] Chr4:102669045..102669046 [GRCh38]
Chr4:103590202..103590203 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.550-6T>C single nucleotide variant Beta-D-mannosidosis [RCV003499702] Chr4:102714567 [GRCh38]
Chr4:103635724 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.930T>C (p.Asp310=) single nucleotide variant Beta-D-mannosidosis [RCV003499646] Chr4:102689604 [GRCh38]
Chr4:103610761 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1644del (p.Ala549fs) deletion Beta-D-mannosidosis [RCV003499728] Chr4:102657742 [GRCh38]
Chr4:103578899 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.372T>C (p.Asn124=) single nucleotide variant Beta-D-mannosidosis [RCV003499667] Chr4:102723868 [GRCh38]
Chr4:103645025 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2247T>C (p.Leu749=) single nucleotide variant Beta-D-mannosidosis [RCV003497604] Chr4:102634956 [GRCh38]
Chr4:103556113 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.819del (p.Ile274fs) deletion Beta-D-mannosidosis [RCV003497785] Chr4:102690626 [GRCh38]
Chr4:103611783 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.960+19A>C single nucleotide variant Beta-D-mannosidosis [RCV003499729] Chr4:102689555 [GRCh38]
Chr4:103610712 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1428C>A (p.Ile476=) single nucleotide variant Beta-D-mannosidosis [RCV003499772] Chr4:102664742 [GRCh38]
Chr4:103585899 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2472C>T (p.Val824=) single nucleotide variant Beta-D-mannosidosis [RCV003499394] Chr4:102632225 [GRCh38]
Chr4:103553382 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1096C>T (p.Arg366Ter) single nucleotide variant Beta-D-mannosidosis [RCV003499705] Chr4:102673935 [GRCh38]
Chr4:103595092 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2352G>A (p.Pro784=) single nucleotide variant Beta-D-mannosidosis [RCV003499783] Chr4:102634851 [GRCh38]
Chr4:103556008 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.674-2A>G single nucleotide variant Beta-D-mannosidosis [RCV003816126] Chr4:102690773 [GRCh38]
Chr4:103611930 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.1317+12C>A single nucleotide variant Beta-D-mannosidosis [RCV003498093] Chr4:102668951 [GRCh38]
Chr4:103590108 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1173A>G (p.Gly391=) single nucleotide variant Beta-D-mannosidosis [RCV003498342] Chr4:102671338 [GRCh38]
Chr4:103592495 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2046C>T (p.Tyr682=) single nucleotide variant Beta-D-mannosidosis [RCV003498859] Chr4:102635976 [GRCh38]
Chr4:103557133 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1107T>G (p.Ser369=) single nucleotide variant Beta-D-mannosidosis [RCV003498890] Chr4:102673924 [GRCh38]
Chr4:103595081 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2613T>C (p.His871=) single nucleotide variant Beta-D-mannosidosis [RCV003837085] Chr4:102632084 [GRCh38]
Chr4:103553241 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.870G>A (p.Trp290Ter) single nucleotide variant Beta-D-mannosidosis [RCV003497621] Chr4:102689664 [GRCh38]
Chr4:103610821 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.1119G>T (p.Arg373=) single nucleotide variant Beta-D-mannosidosis [RCV003497617] Chr4:102671392 [GRCh38]
Chr4:103592549 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.386del (p.Asp129fs) deletion Beta-D-mannosidosis [RCV003497742] Chr4:102723034 [GRCh38]
Chr4:103644191 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2079A>G (p.Pro693=) single nucleotide variant Beta-D-mannosidosis [RCV003856332] Chr4:102635943 [GRCh38]
Chr4:103557100 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1959G>C (p.Gly653=) single nucleotide variant Beta-D-mannosidosis [RCV003499071] Chr4:102639768 [GRCh38]
Chr4:103560925 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.378+15A>G single nucleotide variant Beta-D-mannosidosis [RCV003497797] Chr4:102723847 [GRCh38]
Chr4:103645004 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2100C>T (p.Asn700=) single nucleotide variant Beta-D-mannosidosis [RCV003498088] Chr4:102635922 [GRCh38]
Chr4:103557079 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.849+13del deletion Beta-D-mannosidosis [RCV003498426] Chr4:102690583 [GRCh38]
Chr4:103611740 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.39T>G (p.Gly13=) single nucleotide variant Beta-D-mannosidosis [RCV003498442] Chr4:102760856 [GRCh38]
Chr4:103682013 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2334C>T (p.Asp778=) single nucleotide variant Beta-D-mannosidosis [RCV003854729] Chr4:102634869 [GRCh38]
Chr4:103556026 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2070A>G (p.Pro690=) single nucleotide variant Beta-D-mannosidosis [RCV003851276] Chr4:102635952 [GRCh38]
Chr4:103557109 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1112+10T>C single nucleotide variant Beta-D-mannosidosis [RCV003499824] Chr4:102673909 [GRCh38]
Chr4:103595066 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1545A>G (p.Ala515=) single nucleotide variant Beta-D-mannosidosis [RCV003497370] Chr4:102657841 [GRCh38]
Chr4:103578998 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1231-16_1231-15del deletion Beta-D-mannosidosis [RCV003497474] Chr4:102669064..102669065 [GRCh38]
Chr4:103590221..103590222 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1134T>A (p.Ser378=) single nucleotide variant Beta-D-mannosidosis [RCV003497401] Chr4:102671377 [GRCh38]
Chr4:103592534 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2157+8A>G single nucleotide variant Beta-D-mannosidosis [RCV003497664] Chr4:102635857 [GRCh38]
Chr4:103557014 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.426G>A (p.Leu142=) single nucleotide variant Beta-D-mannosidosis [RCV003497682] Chr4:102722994 [GRCh38]
Chr4:103644151 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1827A>G (p.Thr609=) single nucleotide variant Beta-D-mannosidosis [RCV003497684] Chr4:102650579 [GRCh38]
Chr4:103571736 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.328C>T (p.Leu110=) single nucleotide variant Beta-D-mannosidosis [RCV003497423] Chr4:102723912 [GRCh38]
Chr4:103645069 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1318-13del deletion Beta-D-mannosidosis [RCV003497638] Chr4:102664865 [GRCh38]
Chr4:103586022 [GRCh37]
Chr4:4q24		 benign
NM_005908.4(MANBA):c.762C>T (p.Ala254=) single nucleotide variant Beta-D-mannosidosis [RCV003497641] Chr4:102690683 [GRCh38]
Chr4:103611840 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1869+17C>A single nucleotide variant Beta-D-mannosidosis [RCV003497828] Chr4:102650520 [GRCh38]
Chr4:103571677 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.272+17G>T single nucleotide variant Beta-D-mannosidosis [RCV003498033] Chr4:102726572 [GRCh38]
Chr4:103647729 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1920T>C (p.Ser640=) single nucleotide variant Beta-D-mannosidosis [RCV003498392] Chr4:102639807 [GRCh38]
Chr4:103560964 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2415+18C>T single nucleotide variant Beta-D-mannosidosis [RCV003499692] Chr4:102634770 [GRCh38]
Chr4:103555927 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.378+16C>T single nucleotide variant Beta-D-mannosidosis [RCV003499731] Chr4:102723846 [GRCh38]
Chr4:103645003 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1112+13C>T single nucleotide variant Beta-D-mannosidosis [RCV003498680] Chr4:102673906 [GRCh38]
Chr4:103595063 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.272+15G>T single nucleotide variant Beta-D-mannosidosis [RCV003498681] Chr4:102726574 [GRCh38]
Chr4:103647731 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.954A>G (p.Ser318=) single nucleotide variant Beta-D-mannosidosis [RCV003498834] Chr4:102689580 [GRCh38]
Chr4:103610737 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.270T>A (p.Ile90=) single nucleotide variant Beta-D-mannosidosis [RCV003498876] Chr4:102726591 [GRCh38]
Chr4:103647748 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1384C>T (p.Leu462=) single nucleotide variant Beta-D-mannosidosis [RCV003499060] Chr4:102664786 [GRCh38]
Chr4:103585943 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.272+2T>C single nucleotide variant Beta-D-mannosidosis [RCV003499248] Chr4:102726587 [GRCh38]
Chr4:103647744 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.132C>T (p.Val44=) single nucleotide variant Beta-D-mannosidosis [RCV003499416] Chr4:102760763 [GRCh38]
Chr4:103681920 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.177+19C>A single nucleotide variant Beta-D-mannosidosis [RCV003499461] Chr4:102760699 [GRCh38]
Chr4:103681856 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.925C>T (p.Leu309=) single nucleotide variant Beta-D-mannosidosis [RCV003499387] Chr4:102689609 [GRCh38]
Chr4:103610766 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1112+1G>T single nucleotide variant Beta-D-mannosidosis [RCV003499529] Chr4:102673918 [GRCh38]
Chr4:103595075 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.178-15A>G single nucleotide variant Beta-D-mannosidosis [RCV003499688] Chr4:102726698 [GRCh38]
Chr4:103647855 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.771G>A (p.Lys257=) single nucleotide variant Beta-D-mannosidosis [RCV003499603] Chr4:102690674 [GRCh38]
Chr4:103611831 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1113-17T>C single nucleotide variant Beta-D-mannosidosis [RCV003499482] Chr4:102671415 [GRCh38]
Chr4:103592572 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1710G>A (p.Ser570=) single nucleotide variant Beta-D-mannosidosis [RCV003499541] Chr4:102650696 [GRCh38]
Chr4:103571853 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.272+7A>G single nucleotide variant Beta-D-mannosidosis [RCV003499683] Chr4:102726582 [GRCh38]
Chr4:103647739 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2415+11_2415+17dup duplication Beta-D-mannosidosis [RCV003499851] Chr4:102634770..102634771 [GRCh38]
Chr4:103555927..103555928 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.285A>G (p.Lys95=) single nucleotide variant Beta-D-mannosidosis [RCV003863753] Chr4:102723955 [GRCh38]
Chr4:103645112 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1230+9T>A single nucleotide variant Beta-D-mannosidosis [RCV003842926] Chr4:102671272 [GRCh38]
Chr4:103592429 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1917T>C (p.Arg639=) single nucleotide variant Beta-D-mannosidosis [RCV003840587] Chr4:102639810 [GRCh38]
Chr4:103560967 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.273-7T>A single nucleotide variant Beta-D-mannosidosis [RCV003860529] Chr4:102723974 [GRCh38]
Chr4:103645131 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.169C>T (p.Leu57=) single nucleotide variant Beta-D-mannosidosis [RCV003819449] Chr4:102760726 [GRCh38]
Chr4:103681883 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1164G>C (p.Arg388=) single nucleotide variant Beta-D-mannosidosis [RCV003840752] Chr4:102671347 [GRCh38]
Chr4:103592504 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2103G>T (p.Thr701=) single nucleotide variant Beta-D-mannosidosis [RCV003844754] Chr4:102635919 [GRCh38]
Chr4:103557076 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2415+11G>A single nucleotide variant Beta-D-mannosidosis [RCV003869199] Chr4:102634777 [GRCh38]
Chr4:103555934 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1047C>T (p.Pro349=) single nucleotide variant Beta-D-mannosidosis [RCV003846734] Chr4:102673984 [GRCh38]
Chr4:103595141 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.850-5A>T single nucleotide variant Beta-D-mannosidosis [RCV003870872] Chr4:102689689 [GRCh38]
Chr4:103610846 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1870-16T>C single nucleotide variant Beta-D-mannosidosis [RCV003863608] Chr4:102639873 [GRCh38]
Chr4:103561030 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1575C>T (p.Ser525=) single nucleotide variant Beta-D-mannosidosis [RCV003845537] Chr4:102657811 [GRCh38]
Chr4:103578968 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2157+12G>A single nucleotide variant Beta-D-mannosidosis [RCV003867407] Chr4:102635853 [GRCh38]
Chr4:103557010 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1 copy number loss not specified [RCV003986486] Chr4:99355670..107274288 [GRCh37]
Chr4:4q23-24		 pathogenic
NM_005908.4(MANBA):c.1112+17C>A single nucleotide variant Beta-D-mannosidosis [RCV003869820] Chr4:102673902 [GRCh38]
Chr4:103595059 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.273-10T>C single nucleotide variant Beta-D-mannosidosis [RCV003869539] Chr4:102723977 [GRCh38]
Chr4:103645134 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1 copy number loss not specified [RCV003986501] Chr4:100172302..107880077 [GRCh37]
Chr4:4q23-25		 pathogenic
NM_005908.4(MANBA):c.1605C>T (p.Asp535=) single nucleotide variant Beta-D-mannosidosis [RCV003870270] Chr4:102657781 [GRCh38]
Chr4:103578938 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2298G>A (p.Arg766=) single nucleotide variant Beta-D-mannosidosis [RCV003860117] Chr4:102634905 [GRCh38]
Chr4:103556062 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.784C>T (p.Gln262Ter) single nucleotide variant Beta-D-mannosidosis [RCV003866662] Chr4:102690661 [GRCh38]
Chr4:103611818 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.357A>G (p.Thr119=) single nucleotide variant Beta-D-mannosidosis [RCV003866601] Chr4:102723883 [GRCh38]
Chr4:103645040 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.748C>T (p.Gln250Ter) single nucleotide variant Beta-D-mannosidosis [RCV003865407] Chr4:102690697 [GRCh38]
Chr4:103611854 [GRCh37]
Chr4:4q24		 pathogenic
NM_005908.4(MANBA):c.2316C>G (p.Ser772=) single nucleotide variant Beta-D-mannosidosis [RCV003821793] Chr4:102634887 [GRCh38]
Chr4:103556044 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.2167C>T (p.His723Tyr) single nucleotide variant Beta-D-mannosidosis [RCV003847587] Chr4:102635036 [GRCh38]
Chr4:103556193 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.1311C>T (p.Ala437=) single nucleotide variant Beta-D-mannosidosis [RCV003853458] Chr4:102668969 [GRCh38]
Chr4:103590126 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1443T>C (p.Tyr481=) single nucleotide variant Beta-D-mannosidosis [RCV003856961] Chr4:102664727 [GRCh38]
Chr4:103585884 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.462G>A (p.Gln154=) single nucleotide variant Beta-D-mannosidosis [RCV003840891] Chr4:102722958 [GRCh38]
Chr4:103644115 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1230+15G>A single nucleotide variant Beta-D-mannosidosis [RCV003822421] Chr4:102671266 [GRCh38]
Chr4:103592423 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.1149T>C (p.Asn383=) single nucleotide variant Beta-D-mannosidosis [RCV003862404] Chr4:102671362 [GRCh38]
Chr4:103592519 [GRCh37]
Chr4:4q24		 likely benign
NM_005908.4(MANBA):c.674-5T>G single nucleotide variant MANBA-related condition [RCV003959823] Chr4:102690776 [GRCh38]
Chr4:103611933 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_005908.4(MANBA):c.2119G>A (p.Val707Met) single nucleotide variant Inborn genetic diseases [RCV003381133] Chr4:102635903 [GRCh38]
Chr4:103557060 [GRCh37]
Chr4:4q24		 uncertain significance
NM_005908.4(MANBA):c.111G>T (p.Ser37=) single nucleotide variant Beta-D-mannosidosis [RCV001147332] Chr4:102760784 [GRCh38]
Chr4:103681941 [GRCh37]
Chr4:4q24		 conflicting interpretations of pathogenicity|uncertain significance
NM_005908.4(MANBA):c.1162C>T (p.Arg388Trp) single nucleotide variant Beta-D-mannosidosis [RCV003387495] Chr4:102671349 [GRCh38]
Chr4:103592506 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter) single nucleotide variant Beta-D-mannosidosis [RCV003387494] Chr4:102690753 [GRCh38]
Chr4:103611910 [GRCh37]
Chr4:4q24		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:518
Count of miRNA genes:420
Interacting mature miRNAs:444
Transcripts:ENST00000226578, ENST00000505239, ENST00000506478, ENST00000507358, ENST00000508141, ENST00000511813, ENST00000514430
Prediction methods: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.

Markers in Region
D4S3043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,574,287 - 103,574,461UniSTSGRCh37
Build 364103,793,335 - 103,793,509RGDNCBI36
Celera4100,873,564 - 100,873,730RGD
Cytogenetic Map4q22-q25UniSTS
HuRef499,310,397 - 99,310,549UniSTS
Marshfield Genetic Map4107.95UniSTS
Marshfield Genetic Map4107.95RGD
Genethon Genetic Map4106.3UniSTS
deCODE Assembly Map4107.52UniSTS
Whitehead-YAC Contig Map4 UniSTS
G62492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,582,913 - 103,583,201UniSTSGRCh37
Build 364103,801,961 - 103,802,249RGDNCBI36
Celera4100,882,182 - 100,882,470RGD
Cytogenetic Map4q24UniSTS
Cytogenetic Map4q22-q25UniSTS
HuRef499,319,046 - 99,319,334UniSTS
SHGC-149558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,553,463 - 103,553,788UniSTSGRCh37
Build 364103,772,511 - 103,772,836RGDNCBI36
Celera4100,852,743 - 100,853,068RGD
Cytogenetic Map4q22-q25UniSTS
HuRef499,289,575 - 99,289,900UniSTS
D4S1070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,648,375 - 103,648,547UniSTSGRCh37
Build 364103,867,419 - 103,867,591RGDNCBI36
Celera4100,947,626 - 100,947,798RGD
Cytogenetic Map4q22-q25UniSTS
HuRef499,384,483 - 99,384,655UniSTS
2010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,571,721 - 103,571,813UniSTSGRCh37
Build 364103,790,769 - 103,790,861RGDNCBI36
Celera4100,871,002 - 100,871,094RGD
Cytogenetic Map4q22-q25UniSTS
HuRef499,307,835 - 99,307,927UniSTS
GeneMap99-GB4 RH Map4494.25UniSTS
NCBI RH Map41163.1UniSTS
A001Z33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,656,459 - 103,656,568UniSTSGRCh37
GRCh372035,945,505 - 35,945,606UniSTSGRCh37
Build 364103,875,502 - 103,875,611RGDNCBI36
Celera4100,955,710 - 100,955,819RGD
Celera2032,652,786 - 32,652,887UniSTS
Cytogenetic Map20q11.23-q12UniSTS
Cytogenetic Map4q22-q25UniSTS
Cytogenetic Map4q24UniSTS
HuRef499,392,567 - 99,392,676UniSTS
HuRef2032,681,077 - 32,681,178UniSTS
GeneMap99-GB4 RH Map20209.07UniSTS
SHGC-16519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,552,755 - 103,552,885UniSTSGRCh37
Build 364103,771,803 - 103,771,933RGDNCBI36
Celera4100,852,035 - 100,852,165RGD
Cytogenetic Map4q22-q25UniSTS
HuRef499,288,868 - 99,288,998UniSTS
RH36011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,552,713 - 103,552,901UniSTSGRCh37
Build 364103,771,761 - 103,771,949RGDNCBI36
Celera4100,851,993 - 100,852,181RGD
Cytogenetic Map4q22-q25UniSTS
HuRef499,288,826 - 99,289,014UniSTS
GeneMap99-GB4 RH Map4489.79UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1965 2025 1265 201 1582 58 2782 730 1578 224 882 1433 148 1055 1679 2
Low 474 958 461 423 369 407 1575 1460 2155 195 578 180 27 1 149 1109 4 2
Below cutoff 7 7 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF213884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI079197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU009130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000505239   ⟹   ENSP00000427322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,631,988 - 102,760,933 (-)Ensembl
RefSeq Acc Id: ENST00000506478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,722,373 - 102,723,884 (-)Ensembl
RefSeq Acc Id: ENST00000507358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,753,691 - 102,760,994 (-)Ensembl
RefSeq Acc Id: ENST00000508141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,635,906 - 102,650,838 (-)Ensembl
RefSeq Acc Id: ENST00000511813   ⟹   ENSP00000422001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,723,874 - 102,760,983 (-)Ensembl
RefSeq Acc Id: ENST00000514430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,631,488 - 102,760,941 (-)Ensembl
RefSeq Acc Id: ENST00000642252   ⟹   ENSP00000495483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,631,582 - 102,760,983 (-)Ensembl
RefSeq Acc Id: ENST00000644159   ⟹   ENSP00000494462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,630,770 - 102,760,982 (-)Ensembl
RefSeq Acc Id: ENST00000644545   ⟹   ENSP00000493992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,631,546 - 102,760,992 (-)Ensembl
RefSeq Acc Id: ENST00000644965   ⟹   ENSP00000495818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,722,963 - 102,760,934 (-)Ensembl
RefSeq Acc Id: ENST00000645348   ⟹   ENSP00000495363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,631,749 - 102,760,952 (-)Ensembl
RefSeq Acc Id: ENST00000645558   ⟹   ENSP00000496399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,631,589 - 102,722,925 (-)Ensembl
RefSeq Acc Id: ENST00000646311   ⟹   ENSP00000493465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,631,549 - 102,760,972 (-)Ensembl
RefSeq Acc Id: ENST00000646451   ⟹   ENSP00000495846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,714,438 - 102,728,606 (-)Ensembl
RefSeq Acc Id: ENST00000646727   ⟹   ENSP00000493519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,631,495 - 102,760,952 (-)Ensembl
RefSeq Acc Id: ENST00000647097   ⟹   ENSP00000495247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,630,770 - 102,760,968 (-)Ensembl
RefSeq Acc Id: ENST00000647129   ⟹   ENSP00000496137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,631,563 - 102,723,921 (-)Ensembl
RefSeq Acc Id: NM_005908   ⟹   NP_005899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,630,770 - 102,760,968 (-)NCBI
GRCh374103,552,643 - 103,682,151 (-)ENTREZGENE
GRCh374103,552,643 - 103,682,151 (-)NCBI
Build 364103,771,691 - 103,901,196 (-)NCBI Archive
HuRef499,288,756 - 99,418,261 (-)ENTREZGENE
CHM1_14103,528,967 - 103,658,610 (-)NCBI
T2T-CHM13v2.04105,944,714 - 106,074,870 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047415692   ⟹   XP_047271648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,630,770 - 102,760,968 (-)NCBI
RefSeq Acc Id: XM_047415693   ⟹   XP_047271649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,630,770 - 102,760,452 (-)NCBI
RefSeq Acc Id: XM_047415694   ⟹   XP_047271650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,630,770 - 102,722,910 (-)NCBI
RefSeq Acc Id: XM_054350029   ⟹   XP_054206004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,944,714 - 106,074,870 (-)NCBI
RefSeq Acc Id: XM_054350030   ⟹   XP_054206005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,944,714 - 106,036,809 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_005899   ⟸   NM_005908
- Peptide Label: precursor
- UniProtKB: Q96BC3 (UniProtKB/Swiss-Prot),   Q9NYX9 (UniProtKB/Swiss-Prot),   O00462 (UniProtKB/Swiss-Prot),   A8K6D3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000427322   ⟸   ENST00000505239
RefSeq Acc Id: ENSP00000495483   ⟸   ENST00000642252
RefSeq Acc Id: ENSP00000422001   ⟸   ENST00000511813
RefSeq Acc Id: ENSP00000493992   ⟸   ENST00000644545
RefSeq Acc Id: ENSP00000495818   ⟸   ENST00000644965
RefSeq Acc Id: ENSP00000494462   ⟸   ENST00000644159
RefSeq Acc Id: ENSP00000496399   ⟸   ENST00000645558
RefSeq Acc Id: ENSP00000495363   ⟸   ENST00000645348
RefSeq Acc Id: ENSP00000495846   ⟸   ENST00000646451
RefSeq Acc Id: ENSP00000493465   ⟸   ENST00000646311
RefSeq Acc Id: ENSP00000493519   ⟸   ENST00000646727
RefSeq Acc Id: ENSP00000496137   ⟸   ENST00000647129
RefSeq Acc Id: ENSP00000495247   ⟸   ENST00000647097
RefSeq Acc Id: XP_047271648   ⟸   XM_047415692
- Peptide Label: isoform X1
- UniProtKB: A8K6D3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047271649   ⟸   XM_047415693
- Peptide Label: isoform X1
- UniProtKB: A8K6D3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047271650   ⟸   XM_047415694
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206004   ⟸   XM_054350029
- Peptide Label: isoform X1
- UniProtKB: A8K6D3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206005   ⟸   XM_054350030
- Peptide Label: isoform X2
Protein Domains
Beta-mannosidase Ig-fold   Glycoside hydrolase family 2 catalytic   LRRC37A/B like protein 1 C-terminal   Mannosidase Ig/CBM-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00462-F1-model_v2 AlphaFold O00462 1-879 view protein structure

Promoters
RGD ID:6868154
Promoter ID:EPDNEW_H7242
Type:initiation region
Name:MANBA_2
Description:mannosidase beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7243  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,760,949 - 102,761,009EPDNEW
RGD ID:6802450
Promoter ID:HG_KWN:48824
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005908
Position:
Human AssemblyChrPosition (strand)Source
Build 364103,900,806 - 103,901,657 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6831 AgrOrtholog
COSMIC MANBA COSMIC
Ensembl Genes ENSG00000109323 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000505239.1 UniProtKB/TrEMBL
  ENST00000511813.1 UniProtKB/TrEMBL
  ENST00000642252.1 UniProtKB/TrEMBL
  ENST00000644159.1 UniProtKB/TrEMBL
  ENST00000644545.1 UniProtKB/TrEMBL
  ENST00000644965.1 UniProtKB/TrEMBL
  ENST00000645348.1 UniProtKB/TrEMBL
  ENST00000645558.1 UniProtKB/TrEMBL
  ENST00000646311.1 UniProtKB/TrEMBL
  ENST00000646451.1 UniProtKB/TrEMBL
  ENST00000646727.1 UniProtKB/TrEMBL
  ENST00000647097 ENTREZGENE
  ENST00000647097.2 UniProtKB/Swiss-Prot
  ENST00000647129.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycosidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000109323 GTEx
HGNC ID HGNC:6831 ENTREZGENE
Human Proteome Map MANBA Human Proteome Map
InterPro Beta-gal/glucu_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Beta-mannosidase_Ig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_2_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRC37AB_C UniProtKB/TrEMBL
  Mannosidase_ig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4126 UniProtKB/Swiss-Prot
NCBI Gene 4126 ENTREZGENE
OMIM 609489 OMIM
PANTHER BETA-MANNOSIDASE UniProtKB/Swiss-Prot
  BETA-MANNOSIDASE UniProtKB/Swiss-Prot
  BETA-MANNOSIDASE UniProtKB/TrEMBL
  BETA-MANNOSIDASE UniProtKB/TrEMBL
Pfam Glyco_hydro_2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_mannosidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRC37AB_C UniProtKB/TrEMBL
  Mannosidase_ig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30577 PharmGKB
Superfamily-SCOP SSF49303 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y211_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4U7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y524_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7A0_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7A7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7N1_HUMAN UniProtKB/TrEMBL
  A0A2R8YCE9_HUMAN UniProtKB/TrEMBL
  A0A2R8YE79_HUMAN UniProtKB/TrEMBL
  A0A2R8YEC9_HUMAN UniProtKB/TrEMBL
  A0A2R8YG98_HUMAN UniProtKB/TrEMBL
  A7LFP5_HUMAN UniProtKB/TrEMBL
  A8K6D3 ENTREZGENE, UniProtKB/TrEMBL
  D6RA01_HUMAN UniProtKB/TrEMBL
  E9PFW2_HUMAN UniProtKB/TrEMBL
  L8E9D5_HUMAN UniProtKB/TrEMBL
  MANBA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96BC3 ENTREZGENE
  Q9NYX9 ENTREZGENE
UniProt Secondary Q96BC3 UniProtKB/Swiss-Prot
  Q9NYX9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 MANBA  mannosidase beta  MANBA  mannosidase, beta A, lysosomal  Symbol and/or name change 5135510 APPROVED