VPS45 (vacuolar protein sorting 45 homolog) - Rat Genome Database

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Gene: VPS45 (vacuolar protein sorting 45 homolog) Homo sapiens
Analyze
Symbol: VPS45
Name: vacuolar protein sorting 45 homolog
RGD ID: 732754
HGNC Page HGNC:14579
Description: Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane and synaptic vesicle. Implicated in severe congenital neutropenia 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: H1; H1VPS45; hlVps45; leucocyte vacuolar protein sorting 45; SCN5; vacuolar protein sorting 45 homolog (S. cerevisiae); vacuolar protein sorting 45A; vacuolar protein sorting-associated protein 45; vesicular transport protein rvps45; VPS45A; VPS45B; VPS54A; VSP45; VSP45A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381150,067,382 - 150,145,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1150,067,279 - 150,145,329 (+)EnsemblGRCh38hg38GRCh38
GRCh371150,039,439 - 150,117,507 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361148,305,966 - 148,384,129 (+)NCBINCBI36Build 36hg18NCBI36
Build 341146,852,935 - 146,930,577NCBI
Celera1123,155,097 - 123,233,224 (+)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1121,419,253 - 121,497,382 (+)NCBIHuRef
CHM1_11151,435,419 - 151,513,453 (+)NCBICHM1_1
T2T-CHM13v2.01149,191,963 - 149,270,002 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function
protein binding  (IPI,ISO)

Molecular Pathway 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. Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking. Pevsner J, etal., Gene 1996 Dec 12;183(1-2):7-14.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:9045632   PMID:10404641   PMID:11062261   PMID:11788822   PMID:12110575   PMID:12477932   PMID:14623309   PMID:14702039   PMID:15016378   PMID:15489334   PMID:16344560  
PMID:19931244   PMID:21294900   PMID:21873635   PMID:22939629   PMID:23599270   PMID:23738510   PMID:25056061   PMID:25416956   PMID:25640309   PMID:25921289   PMID:26186194   PMID:26344197  
PMID:26358756   PMID:26638075   PMID:26972000   PMID:27173435   PMID:28319085   PMID:28514442   PMID:28611215   PMID:28718761   PMID:29509190   PMID:29568061   PMID:30194290   PMID:30833792  
PMID:31267705   PMID:31527615   PMID:31732153   PMID:31871319   PMID:31950832   PMID:31988382   PMID:32149426   PMID:32296183   PMID:32513696   PMID:32590190   PMID:33512427   PMID:33845483  
PMID:33961781   PMID:34079125   PMID:34369648   PMID:34373451   PMID:34432599   PMID:34597346   PMID:34709727   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35509820  
PMID:35844135   PMID:35914814   PMID:36215168   PMID:36217030   PMID:36610398   PMID:37232246   PMID:37314216   PMID:37689310   PMID:37774976   PMID:37827155  


Genomics

Comparative Map Data
VPS45
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381150,067,382 - 150,145,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1150,067,279 - 150,145,329 (+)EnsemblGRCh38hg38GRCh38
GRCh371150,039,439 - 150,117,507 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361148,305,966 - 148,384,129 (+)NCBINCBI36Build 36hg18NCBI36
Build 341146,852,935 - 146,930,577NCBI
Celera1123,155,097 - 123,233,224 (+)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1121,419,253 - 121,497,382 (+)NCBIHuRef
CHM1_11151,435,419 - 151,513,453 (+)NCBICHM1_1
T2T-CHM13v2.01149,191,963 - 149,270,002 (+)NCBIT2T-CHM13v2.0
Vps45
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39395,907,144 - 95,969,715 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl395,907,144 - 95,965,778 (-)EnsemblGRCm39 Ensembl
GRCm38395,999,832 - 96,059,661 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl395,999,832 - 96,058,466 (-)EnsemblGRCm38mm10GRCm38
MGSCv37395,803,755 - 95,862,378 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36396,085,265 - 96,143,860 (-)NCBIMGSCv36mm8
Celera397,433,896 - 97,493,930 (-)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map341.65NCBI
Vps45
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82186,244,839 - 186,305,177 (-)NCBIGRCr8
mRatBN7.22183,555,919 - 183,616,312 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2183,555,921 - 183,616,295 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2191,219,584 - 191,279,748 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02189,024,016 - 189,083,974 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02183,852,136 - 183,912,300 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02198,123,747 - 198,184,739 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2198,123,748 - 198,184,739 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02217,613,523 - 217,674,338 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42190,799,602 - 190,859,954 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12190,762,356 - 190,822,708 (-)NCBI
Celera2176,084,339 - 176,144,558 (-)NCBICelera
Cytogenetic Map2q34NCBI
Vps45
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955413614,018 - 680,564 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955413615,510 - 680,564 (-)NCBIChiLan1.0ChiLan1.0
VPS45
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2199,693,326 - 99,780,531 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1199,442,511 - 99,529,678 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01125,412,566 - 125,490,615 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11129,065,430 - 129,142,990 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1129,063,462 - 129,142,990 (+)Ensemblpanpan1.1panPan2
VPS45
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11759,327,781 - 59,402,172 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1759,327,806 - 59,397,811 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1758,774,865 - 58,849,260 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01760,323,934 - 60,398,328 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1760,323,956 - 60,398,341 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11759,173,467 - 59,247,924 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01759,257,213 - 59,331,814 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01759,984,519 - 60,058,877 (+)NCBIUU_Cfam_GSD_1.0
Vps45
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505821,350,412 - 21,404,733 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936580380,788 - 435,142 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936580380,794 - 435,115 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VPS45
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl498,939,584 - 99,010,585 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1498,939,585 - 99,010,554 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24108,213,422 - 108,285,082 (-)NCBISscrofa10.2Sscrofa10.2susScr3
VPS45
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603813,152,158 - 13,236,004 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vps45
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477217,818,039 - 17,889,228 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477217,817,958 - 17,885,107 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VPS45
552 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000551376]|not provided [RCV001598675]|not specified [RCV001796121] Chr1:150072183 [GRCh38]
Chr1:150044250 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.614G>A (p.Arg205His) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000527508]|not provided [RCV003148787] Chr1:150077706 [GRCh38]
Chr1:150049784 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000049320] Chr1:150077763 [GRCh38]
Chr1:150049841 [GRCh37]
Chr1:1q21.2
pathogenic
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000049321] Chr1:150081366 [GRCh38]
Chr1:150053448 [GRCh37]
Chr1:1q21.2
pathogenic|likely pathogenic
GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1 copy number loss See cases [RCV000051175] Chr1:150034379..150414215 [GRCh38]
Chr1:150006344..150311095 [GRCh37]
Chr1:148272968..148653315 [NCBI36]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.285C>T (p.Phe95=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002157521] Chr1:150072222 [GRCh38]
Chr1:150044289 [GRCh37]
Chr1:148310913 [NCBI36]
Chr1:1q21.2
likely benign|not provided
NM_007259.5(VPS45):c.1664G>C (p.Arg555Pro) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002517352]|not specified [RCV000203162] Chr1:150144747 [GRCh38]
Chr1:150116925 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3 copy number gain Breast ductal adenocarcinoma [RCV000207055] Chr1:149783688..150049029 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
NM_007259.5(VPS45):c.290-10T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000651507]|not provided [RCV001699091]|not specified [RCV000250141] Chr1:150076223 [GRCh38]
Chr1:150048301 [GRCh37]
Chr1:1q21.2
benign|likely benign
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279600] Chr1:150068709 [GRCh38]
Chr1:150040766 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.462G>A (p.Gln154=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279605]|not specified [RCV004699262] Chr1:150077117 [GRCh38]
Chr1:150049195 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.2(chr1:149895368-150130518)x1 copy number loss See cases [RCV000448613] Chr1:149895368..150130518 [GRCh37]
Chr1:1q21.2
pathogenic|uncertain significance
NM_007259.5(VPS45):c.888G>C (p.Lys296Asn) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002527309]|not specified [RCV000503939] Chr1:150081949 [GRCh38]
Chr1:150054031 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.318C>T (p.Asp106=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000651508]|VPS45-related disorder [RCV003942657]|not provided [RCV003409710]|not specified [RCV000502500] Chr1:150076261 [GRCh38]
Chr1:150048339 [GRCh37]
Chr1:1q21.2
benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_007259.5(VPS45):c.1403C>T (p.Pro468Leu) single nucleotide variant not provided [RCV000493722] Chr1:150093558 [GRCh38]
Chr1:150065654 [GRCh37]
Chr1:1q21.2
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000768135] Chr1:150110537 [GRCh38]
Chr1:150082652 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000534198]|not provided [RCV001653915] Chr1:150082811 [GRCh38]
Chr1:150054895 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.514T>C (p.Cys172Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000651500]|Inborn genetic diseases [RCV003352973] Chr1:150077169 [GRCh38]
Chr1:150049247 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000651501] Chr1:150076242 [GRCh38]
Chr1:150048320 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1442G>A (p.Arg481Lys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000651502] Chr1:150093597 [GRCh38]
Chr1:150065693 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000651503]|not provided [RCV003480740] Chr1:150077221 [GRCh38]
Chr1:150049299 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1494-7A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000651504] Chr1:150110489 [GRCh38]
Chr1:150082604 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.570C>T (p.Cys190=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000651505] Chr1:150077225 [GRCh38]
Chr1:150049303 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.126G>A (p.Ser42=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000651506] Chr1:150068662 [GRCh38]
Chr1:150040719 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1315C>T (p.Leu439Phe) single nucleotide variant Inborn genetic diseases [RCV003276497] Chr1:150092353 [GRCh38]
Chr1:150064447 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.718C>G (p.Leu240Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000540102] Chr1:150081372 [GRCh38]
Chr1:150053454 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000700076] Chr1:150093573 [GRCh38]
Chr1:150065669 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_007259.5(VPS45):c.756G>T (p.Val252=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000976801] Chr1:150081410 [GRCh38]
Chr1:150053492 [GRCh37]
Chr1:1q21.2
likely benign
NC_000001.11:g.150066990G>A single nucleotide variant not provided [RCV001666540] Chr1:150066990 [GRCh38]
Chr1:150039047 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.576+120G>A single nucleotide variant not provided [RCV001645931] Chr1:150077351 [GRCh38]
Chr1:150049429 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1105-95G>A single nucleotide variant not provided [RCV001691693] Chr1:150091842 [GRCh38]
Chr1:150063936 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1372-336T>C single nucleotide variant not provided [RCV001609631] Chr1:150093191 [GRCh38]
Chr1:150065287 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.577-5C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000945043] Chr1:150077664 [GRCh38]
Chr1:150049742 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.210T>C (p.Cys70=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000905607] Chr1:150068746 [GRCh38]
Chr1:150040803 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1701G>A (p.Ala567=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000927642] Chr1:150144784 [GRCh38]
Chr1:150116962 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.897A>G (p.Pro299=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000970423]|not specified [RCV001819106] Chr1:150081958 [GRCh38]
Chr1:150054040 [GRCh37]
Chr1:1q21.2
benign|likely benign
NM_007259.5(VPS45):c.96T>G (p.Thr32=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000943888] Chr1:150068632 [GRCh38]
Chr1:150040689 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1023G>A (p.Leu341=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000922120] Chr1:150082802 [GRCh38]
Chr1:150054886 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1656G>T (p.Leu552=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001414970] Chr1:150144739 [GRCh38]
Chr1:150116917 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.915A>G (p.Leu305=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000927841] Chr1:150081976 [GRCh38]
Chr1:150054058 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1494-5T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000983526] Chr1:150110491 [GRCh38]
Chr1:150082606 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1162G>A (p.Val388Met) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001055299] Chr1:150091994 [GRCh38]
Chr1:150064088 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1448A>G (p.Lys483Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001035405] Chr1:150093603 [GRCh38]
Chr1:150065699 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.785T>C (p.Val262Ala) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000806580]|not specified [RCV001816872] Chr1:150081439 [GRCh38]
Chr1:150053521 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1626-8del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001461334] Chr1:150144701 [GRCh38]
Chr1:150116879 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000908852]|not provided [RCV001507451] Chr1:150092029 [GRCh38]
Chr1:150064123 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_007259.5(VPS45):c.6C>T (p.Asn2=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001473785] Chr1:150067863 [GRCh38]
Chr1:150039920 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.369+8T>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000977183]|not specified [RCV001819152] Chr1:150076320 [GRCh38]
Chr1:150048398 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_007259.5(VPS45):c.342T>C (p.Asp114=) single nucleotide variant not provided [RCV000894984] Chr1:150076285 [GRCh38]
Chr1:150048363 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1626-4T>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000809197] Chr1:150144705 [GRCh38]
Chr1:150116883 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000819494] Chr1:150077688 [GRCh38]
Chr1:150049766 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.192A>T (p.Lys64Asn) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000806768] Chr1:150068728 [GRCh38]
Chr1:150040785 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000823831]|Inborn genetic diseases [RCV003344079]|not provided [RCV001507977] Chr1:150092022 [GRCh38]
Chr1:150064116 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000824032] Chr1:150110540 [GRCh38]
Chr1:150082655 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.684C>T (p.Asn228=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001417131] Chr1:150077776 [GRCh38]
Chr1:150049854 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000816959]|not provided [RCV003233861] Chr1:150068706 [GRCh38]
Chr1:150040763 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000802208] Chr1:150144747 [GRCh38]
Chr1:150116925 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.319G>A (p.Val107Met) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000792446] Chr1:150076262 [GRCh38]
Chr1:150048340 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1371+5A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000801562]|not specified [RCV003489887] Chr1:150092414 [GRCh38]
Chr1:150064508 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000815025]|not provided [RCV001507976] Chr1:150092006 [GRCh38]
Chr1:150064100 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001043234] Chr1:150110569 [GRCh38]
Chr1:150082684 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.571G>A (p.Val191Ile) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000796439] Chr1:150077226 [GRCh38]
Chr1:150049304 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1623A>G (p.Lys541=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001487161] Chr1:150110625 [GRCh38]
Chr1:150082740 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000799338] Chr1:150092332 [GRCh38]
Chr1:150064426 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.167A>G (p.Asp56Gly) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000816724] Chr1:150068703 [GRCh38]
Chr1:150040760 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1019G>A (p.Arg340Gln) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001247581] Chr1:150082798 [GRCh38]
Chr1:150054882 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001241936]|not provided [RCV001549457]|not specified [RCV001819942] Chr1:150077142 [GRCh38]
Chr1:150049220 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.617G>A (p.Arg206Gln) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001224789] Chr1:150077709 [GRCh38]
Chr1:150049787 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.658G>C (p.Asp220His) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001206396] Chr1:150077750 [GRCh38]
Chr1:150049828 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1186G>C (p.Glu396Gln) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001065158] Chr1:150092018 [GRCh38]
Chr1:150064112 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.*76G>T single nucleotide variant not provided [RCV001092900] Chr1:150144872 [GRCh38]
Chr1:150117050 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_007259.5(VPS45):c.320T>A (p.Val107Glu) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003105187]|Inborn genetic diseases [RCV004244557] Chr1:150076263 [GRCh38]
Chr1:150048341 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.687+125C>T single nucleotide variant not provided [RCV001720872] Chr1:150077904 [GRCh38]
Chr1:150049982 [GRCh37]
Chr1:1q21.2
benign
NC_000001.11:g.150067346T>A single nucleotide variant not provided [RCV001671451] Chr1:150067346 [GRCh38]
Chr1:150039403 [GRCh37]
Chr1:1q21.2
benign
NC_000001.11:g.150067150C>A single nucleotide variant not provided [RCV001612549] Chr1:150067150 [GRCh38]
Chr1:150039207 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.369+130C>T single nucleotide variant not provided [RCV001716355] Chr1:150076442 [GRCh38]
Chr1:150048520 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.688-35T>C single nucleotide variant not provided [RCV001714098] Chr1:150081307 [GRCh38]
Chr1:150053389 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1105-160G>C single nucleotide variant not provided [RCV001690194] Chr1:150091777 [GRCh38]
Chr1:150063871 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1395G>A (p.Gln465=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000907059] Chr1:150093550 [GRCh38]
Chr1:150065646 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.336A>G (p.Glu112=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001503803] Chr1:150076279 [GRCh38]
Chr1:150048357 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000973900]|not provided [RCV002511004]|not specified [RCV001819138] Chr1:150081412 [GRCh38]
Chr1:150053494 [GRCh37]
Chr1:1q21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007259.5(VPS45):c.937-7A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002066469] Chr1:150082709 [GRCh38]
Chr1:150054793 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1641T>C (p.Val547=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000983737] Chr1:150144724 [GRCh38]
Chr1:150116902 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.750C>T (p.Ser250=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001502821] Chr1:150081404 [GRCh38]
Chr1:150053486 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1104+7C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001500215] Chr1:150082890 [GRCh38]
Chr1:150054974 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.625G>T (p.Val209Phe) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000886100]|not specified [RCV001818631] Chr1:150077717 [GRCh38]
Chr1:150049795 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_007259.5(VPS45):c.939G>A (p.Ala313=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000938587]|VPS45-related disorder [RCV003913176] Chr1:150082718 [GRCh38]
Chr1:150054802 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.702C>T (p.Ala234=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000930598] Chr1:150081356 [GRCh38]
Chr1:150053438 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1158C>G (p.Arg386=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000981097] Chr1:150091990 [GRCh38]
Chr1:150064084 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.378T>C (p.Tyr126=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001503303] Chr1:150076924 [GRCh38]
Chr1:150049002 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.201G>A (p.Lys67=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001271742] Chr1:150068737 [GRCh38]
Chr1:150040794 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_007259.5(VPS45):c.711C>T (p.His237=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000930079] Chr1:150081365 [GRCh38]
Chr1:150053447 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1556A>G (p.Tyr519Cys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000887804]|not provided [RCV003884787] Chr1:150110558 [GRCh38]
Chr1:150082673 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_007259.5(VPS45):c.1267G>A (p.Val423Met) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001223715] Chr1:150092305 [GRCh38]
Chr1:150064399 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1267G>C (p.Val423Leu) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001243712]|not specified [RCV001819944] Chr1:150092305 [GRCh38]
Chr1:150064399 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.580G>A (p.Val194Met) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001245653] Chr1:150077672 [GRCh38]
Chr1:150049750 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.481G>A (p.Gly161Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001234600] Chr1:150077136 [GRCh38]
Chr1:150049214 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.442C>T (p.Arg148Ter) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001070142] Chr1:150077097 [GRCh38]
Chr1:150049175 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.687G>C (p.Gln229His) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001241633] Chr1:150077779 [GRCh38]
Chr1:150049857 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1371+9A>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV000935397]|not specified [RCV001818908] Chr1:150092418 [GRCh38]
Chr1:150064512 [GRCh37]
Chr1:1q21.2
benign|likely benign
NM_007259.5(VPS45):c.1104+54G>A single nucleotide variant not provided [RCV001597640] Chr1:150082937 [GRCh38]
Chr1:150055021 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.290-169del deletion not provided [RCV001660763] Chr1:150076061 [GRCh38]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1494-144T>G single nucleotide variant not provided [RCV001656057] Chr1:150110352 [GRCh38]
Chr1:150082466 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1427A>G (p.His476Arg) single nucleotide variant not provided [RCV002464680] Chr1:150093582 [GRCh38]
Chr1:150065678 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.370-123A>T single nucleotide variant not provided [RCV001638762] Chr1:150076793 [GRCh38]
Chr1:150048871 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1105-126A>G single nucleotide variant not provided [RCV001539136] Chr1:150091811 [GRCh38]
Chr1:150063905 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.289+31G>A single nucleotide variant not provided [RCV001620023] Chr1:150072257 [GRCh38]
Chr1:150044324 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.576+153A>G single nucleotide variant not provided [RCV001676857] Chr1:150077384 [GRCh38]
Chr1:150049462 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.228+102G>A single nucleotide variant not provided [RCV001665669] Chr1:150068866 [GRCh38]
Chr1:150040923 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.695_696del (p.Tyr232fs) microsatellite Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001071275] Chr1:150081347..150081348 [GRCh38]
Chr1:150053429..150053430 [GRCh37]
Chr1:1q21.2
uncertain significance
NC_000001.11:g.150067240T>C single nucleotide variant not provided [RCV001609817] Chr1:150067240 [GRCh38]
Chr1:150039297 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1018C>T (p.Arg340Ter) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001035936] Chr1:150082797 [GRCh38]
Chr1:150054881 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.688-120G>A single nucleotide variant not provided [RCV001609775] Chr1:150081222 [GRCh38]
Chr1:150053304 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.687+201G>A single nucleotide variant not provided [RCV001682294] Chr1:150077980 [GRCh38]
Chr1:150050058 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.576+101del deletion not provided [RCV001613761] Chr1:150077332 [GRCh38]
Chr1:150049410 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.937-28C>T single nucleotide variant not provided [RCV001652517] Chr1:150082688 [GRCh38]
Chr1:150054772 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.64A>G (p.Met22Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001248740] Chr1:150067921 [GRCh38]
Chr1:150039978 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.526C>T (p.Arg176Cys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001058114] Chr1:150077181 [GRCh38]
Chr1:150049259 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1481C>T (p.Thr494Ile) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001058251] Chr1:150093636 [GRCh38]
Chr1:150065732 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.778A>G (p.Arg260Gly) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001054290]|Inborn genetic diseases [RCV002553342] Chr1:150081432 [GRCh38]
Chr1:150053514 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.857A>G (p.Asn286Ser) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001071443] Chr1:150081918 [GRCh38]
Chr1:150054000 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1676G>C (p.Ser559Thr) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001071939] Chr1:150144759 [GRCh38]
Chr1:150116937 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1334C>G (p.Ala445Gly) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001247041]|Inborn genetic diseases [RCV002564115] Chr1:150092372 [GRCh38]
Chr1:150064466 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.257T>C (p.Leu86Pro) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001070772] Chr1:150072194 [GRCh38]
Chr1:150044261 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.123A>G (p.Gln41=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001348674] Chr1:150068659 [GRCh38]
Chr1:150040716 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.439-6A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001294328] Chr1:150077088 [GRCh38]
Chr1:150049166 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.443G>A (p.Arg148Gln) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279604] Chr1:150077098 [GRCh38]
Chr1:150049176 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.260G>A (p.Arg87Gln) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001267808]|Inborn genetic diseases [RCV004035298] Chr1:150072197 [GRCh38]
Chr1:150044264 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.527G>C (p.Arg176Pro) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001298674] Chr1:150077182 [GRCh38]
Chr1:150049260 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1140_1141insC (p.Glu381fs) insertion Severe congenital neutropenia 5, autosomal recessive [RCV001330373] Chr1:150091972..150091973 [GRCh38]
Chr1:150064066..150064067 [GRCh37]
Chr1:1q21.2
pathogenic
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001343269]|not specified [RCV001820044] Chr1:150081959 [GRCh38]
Chr1:150054041 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1414G>A (p.Glu472Lys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001306194] Chr1:150093569 [GRCh38]
Chr1:150065665 [GRCh37]
Chr1:1q21.2
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_007259.5(VPS45):c.1011A>G (p.Glu337=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001415161] Chr1:150082790 [GRCh38]
Chr1:150054874 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1516G>A (p.Val506Ile) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001374133] Chr1:150110518 [GRCh38]
Chr1:150082633 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.345A>G (p.Glu115=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001396948] Chr1:150076288 [GRCh38]
Chr1:150048366 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.328T>C (p.Leu110=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001433493] Chr1:150076271 [GRCh38]
Chr1:150048349 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.-4C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279599]|VPS45-related disorder [RCV003963172]|not specified [RCV001819975] Chr1:150067854 [GRCh38]
Chr1:150039911 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_007259.5(VPS45):c.739A>G (p.Ile247Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279606] Chr1:150081393 [GRCh38]
Chr1:150053475 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1181A>G (p.His394Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279609] Chr1:150092013 [GRCh38]
Chr1:150064107 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1700C>T (p.Ala567Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279610] Chr1:150144783 [GRCh38]
Chr1:150116961 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1335T>C (p.Ala445=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001397367] Chr1:150092373 [GRCh38]
Chr1:150064467 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.957A>C (p.Pro319=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001415371] Chr1:150082736 [GRCh38]
Chr1:150054820 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.663T>C (p.Asp221=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001392482] Chr1:150077755 [GRCh38]
Chr1:150049833 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.652C>T (p.Arg218Cys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001325375] Chr1:150077744 [GRCh38]
Chr1:150049822 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1157G>A (p.Arg386His) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001343623] Chr1:150091989 [GRCh38]
Chr1:150064083 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1231A>G (p.Arg411Gly) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001326551]|Inborn genetic diseases [RCV003339599] Chr1:150092063 [GRCh38]
Chr1:150064157 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.613C>T (p.Arg205Cys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001320538] Chr1:150077705 [GRCh38]
Chr1:150049783 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.390T>C (p.Ile130=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279602] Chr1:150076936 [GRCh38]
Chr1:150049014 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_007259.5(VPS45):c.223A>G (p.Thr75Ala) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001330374] Chr1:150068759 [GRCh38]
Chr1:150040816 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.353T>G (p.Val118Gly) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279601] Chr1:150076296 [GRCh38]
Chr1:150048374 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279603] Chr1:150076965 [GRCh38]
Chr1:150049043 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279608] Chr1:150091965 [GRCh38]
Chr1:150064059 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001279607]|Inborn genetic diseases [RCV002541713] Chr1:150082812 [GRCh38]
Chr1:150054896 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1371+9A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001412918] Chr1:150092418 [GRCh38]
Chr1:150064512 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.229-6T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001414158] Chr1:150072160 [GRCh38]
Chr1:150044227 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.73C>A (p.Leu25Ile) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001299013] Chr1:150067930 [GRCh38]
Chr1:150039987 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1584G>A (p.Val528=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001477969] Chr1:150110586 [GRCh38]
Chr1:150082701 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1572C>T (p.Thr524=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001490391] Chr1:150110574 [GRCh38]
Chr1:150082689 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1509T>A (p.Ile503=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001479303] Chr1:150110511 [GRCh38]
Chr1:150082626 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1491C>T (p.Asp497=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001479384] Chr1:150093646 [GRCh38]
Chr1:150065742 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1605C>A (p.Thr535=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001454964] Chr1:150110607 [GRCh38]
Chr1:150082722 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1272T>C (p.Ser424=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001441391] Chr1:150092310 [GRCh38]
Chr1:150064404 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1689A>T (p.Thr563=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001417221] Chr1:150144772 [GRCh38]
Chr1:150116950 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.228+7C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001462478] Chr1:150068771 [GRCh38]
Chr1:150040828 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1155C>T (p.Ala385=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001441580] Chr1:150091987 [GRCh38]
Chr1:150064081 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.435C>T (p.Cys145=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001482981] Chr1:150076981 [GRCh38]
Chr1:150049059 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.228+9T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001476253] Chr1:150068773 [GRCh38]
Chr1:150040830 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1341T>A (p.Ala447=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001478983] Chr1:150092379 [GRCh38]
Chr1:150064473 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.114A>G (p.Val38=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001455273] Chr1:150068650 [GRCh38]
Chr1:150040707 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.78C>T (p.Leu26=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001465586] Chr1:150067935 [GRCh38]
Chr1:150039992 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1042C>T (p.Leu348=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001477089] Chr1:150082821 [GRCh38]
Chr1:150054905 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.645T>A (p.Ile215=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001503427] Chr1:150077737 [GRCh38]
Chr1:150049815 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1689A>G (p.Thr563=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001491695] Chr1:150144772 [GRCh38]
Chr1:150116950 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.228+8A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001434182] Chr1:150068772 [GRCh38]
Chr1:150040829 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.576+8A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001503558] Chr1:150077239 [GRCh38]
Chr1:150049317 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1482A>G (p.Thr494=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001491737] Chr1:150093637 [GRCh38]
Chr1:150065733 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1410A>G (p.Leu470=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001470301] Chr1:150093565 [GRCh38]
Chr1:150065661 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.906G>A (p.Gln302=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001419015] Chr1:150081967 [GRCh38]
Chr1:150054049 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1116G>A (p.Arg372=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001504832] Chr1:150091948 [GRCh38]
Chr1:150064042 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.624G>A (p.Glu208=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001493602] Chr1:150077716 [GRCh38]
Chr1:150049794 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1455C>T (p.Asn485=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001481649] Chr1:150093610 [GRCh38]
Chr1:150065706 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.465A>G (p.Leu155=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001488531] Chr1:150077120 [GRCh38]
Chr1:150049198 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.290-14C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001512904]|not provided [RCV004715438] Chr1:150076219 [GRCh38]
Chr1:150048297 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1170T>C (p.Leu390=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001467822] Chr1:150092002 [GRCh38]
Chr1:150064096 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.780A>G (p.Arg260=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001432587] Chr1:150081434 [GRCh38]
Chr1:150053516 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.816T>C (p.Tyr272=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001407568] Chr1:150081470 [GRCh38]
Chr1:150053552 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.577-4A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001405361] Chr1:150077665 [GRCh38]
Chr1:150049743 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.786G>A (p.Val262=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001431117] Chr1:150081440 [GRCh38]
Chr1:150053522 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.72A>G (p.Val24=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001423665] Chr1:150067929 [GRCh38]
Chr1:150039986 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.783A>G (p.Glu261=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001444519] Chr1:150081437 [GRCh38]
Chr1:150053519 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.597T>C (p.Tyr199=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001410657] Chr1:150077689 [GRCh38]
Chr1:150049767 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.406T>C (p.Leu136=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001402531] Chr1:150076952 [GRCh38]
Chr1:150049030 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1314C>T (p.Asp438=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001416251] Chr1:150092352 [GRCh38]
Chr1:150064446 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.48G>A (p.Glu16=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001447913] Chr1:150067905 [GRCh38]
Chr1:150039962 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.447T>C (p.Asn149=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001432064] Chr1:150077102 [GRCh38]
Chr1:150049180 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.369+29C>T single nucleotide variant not provided [RCV001535348] Chr1:150076341 [GRCh38]
Chr1:150048419 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1233G>A (p.Arg411=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001425940] Chr1:150092065 [GRCh38]
Chr1:150064159 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1479C>T (p.Ser493=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001453972] Chr1:150093634 [GRCh38]
Chr1:150065730 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.62G>A (p.Gly21Asp) single nucleotide variant not provided [RCV001507975] Chr1:150067919 [GRCh38]
Chr1:150039976 [GRCh37]
Chr1:1q21.2
uncertain significance
NC_000001.11:g.150067210= single nucleotide variant not provided [RCV001645365] Chr1:150067210 [GRCh38]
Chr1:150039267 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.765C>T (p.Ile255=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001464618] Chr1:150081419 [GRCh38]
Chr1:150053501 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.234T>C (p.Asn78=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001465485] Chr1:150072171 [GRCh38]
Chr1:150044238 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1297C>A (p.Arg433=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001486697]|VPS45-related disorder [RCV003965987]|not specified [RCV001820184] Chr1:150092335 [GRCh38]
Chr1:150064429 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1626-14A>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001511496]|not provided [RCV004715430] Chr1:150144695 [GRCh38]
Chr1:150116873 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1266C>T (p.Leu422=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001480129] Chr1:150092304 [GRCh38]
Chr1:150064398 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.439-2del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001516797] Chr1:150077088 [GRCh38]
Chr1:150049166 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.259C>A (p.Arg87=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001480283] Chr1:150072196 [GRCh38]
Chr1:150044263 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.543A>G (p.Ser181=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001452358] Chr1:150077198 [GRCh38]
Chr1:150049276 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.577-9C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001453130] Chr1:150077660 [GRCh38]
Chr1:150049738 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.687+77A>G single nucleotide variant not provided [RCV001716629] Chr1:150077856 [GRCh38]
Chr1:150049934 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1712G>A (p.Ter571=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001477798] Chr1:150144795 [GRCh38]
Chr1:150116973 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.852T>C (p.Gly284=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001464131] Chr1:150081913 [GRCh38]
Chr1:150053995 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1164G>A (p.Val388=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001505519] Chr1:150091996 [GRCh38]
Chr1:150064090 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.468T>G (p.Ser156=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001484997] Chr1:150077123 [GRCh38]
Chr1:150049201 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.229-94C>T single nucleotide variant not provided [RCV001716414] Chr1:150072072 [GRCh38]
Chr1:150044139 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1104+10A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001472558] Chr1:150082893 [GRCh38]
Chr1:150054977 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1014G>A (p.Leu338=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001401172] Chr1:150082793 [GRCh38]
Chr1:150054877 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.186C>A (p.Ile62=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001405712] Chr1:150068722 [GRCh38]
Chr1:150040779 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.276T>C (p.Thr92=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001497775] Chr1:150072213 [GRCh38]
Chr1:150044280 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.229-5dup duplication Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001523157] Chr1:150072157..150072158 [GRCh38]
Chr1:150044224..150044225 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1338G>A (p.Val446=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001497262]|not provided [RCV001531637] Chr1:150092376 [GRCh38]
Chr1:150064470 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1458A>G (p.Leu486=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001474318] Chr1:150093613 [GRCh38]
Chr1:150065709 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.615T>C (p.Arg205=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001452690] Chr1:150077707 [GRCh38]
Chr1:150049785 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.621A>C (p.Thr207=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001452742] Chr1:150077713 [GRCh38]
Chr1:150049791 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1260A>G (p.Arg420=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001453549] Chr1:150092092 [GRCh38]
Chr1:150064186 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1653A>G (p.Gly551=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001498271] Chr1:150144736 [GRCh38]
Chr1:150116914 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1005T>C (p.Val335=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001483148] Chr1:150082784 [GRCh38]
Chr1:150054868 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1701G>T (p.Ala567=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001481923] Chr1:150144784 [GRCh38]
Chr1:150116962 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.324G>A (p.Lys108=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001502603] Chr1:150076267 [GRCh38]
Chr1:150048345 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.759G>A (p.Pro253=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001466006] Chr1:150081413 [GRCh38]
Chr1:150053495 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.717A>G (p.Leu239=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001500677] Chr1:150081371 [GRCh38]
Chr1:150053453 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1372-9C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001436865]|not specified [RCV001820129] Chr1:150093518 [GRCh38]
Chr1:150065614 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1401A>G (p.Gln467=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001399902] Chr1:150093556 [GRCh38]
Chr1:150065652 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.675A>G (p.Pro225=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001423678] Chr1:150077767 [GRCh38]
Chr1:150049845 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1473C>T (p.Gly491=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001466349]|VPS45-related disorder [RCV003980386] Chr1:150093628 [GRCh38]
Chr1:150065724 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.290-11_290-10del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001438701] Chr1:150076222..150076223 [GRCh38]
Chr1:150048300..150048301 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1386A>G (p.Val462=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001479309] Chr1:150093541 [GRCh38]
Chr1:150065637 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.702C>G (p.Ala234=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001501068]|VPS45-related disorder [RCV003980445]|not provided [RCV004711693] Chr1:150081356 [GRCh38]
Chr1:150053438 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1620G>A (p.Thr540=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001426530] Chr1:150110622 [GRCh38]
Chr1:150082737 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1255T>C (p.Tyr419His) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001489676] Chr1:150092087 [GRCh38]
Chr1:150064181 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.235G>A (p.Val79Met) single nucleotide variant not specified [RCV001817517] Chr1:150072172 [GRCh38]
Chr1:150044239 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.536T>C (p.Leu179Pro) single nucleotide variant not specified [RCV001822553] Chr1:150077191 [GRCh38]
Chr1:150049269 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.200A>G (p.Lys67Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002503314]|Inborn genetic diseases [RCV002542018]|not specified [RCV001819229] Chr1:150068736 [GRCh38]
Chr1:150040793 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.*4G>A single nucleotide variant not specified [RCV001819269] Chr1:150144800 [GRCh38]
Chr1:150116978 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.888G>A (p.Lys296=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002074300]|not specified [RCV001819289] Chr1:150081949 [GRCh38]
Chr1:150054031 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_007259.5(VPS45):c.229G>A (p.Glu77Lys) single nucleotide variant Inborn genetic diseases [RCV002542608]|not specified [RCV001820335] Chr1:150072166 [GRCh38]
Chr1:150044233 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1186G>A (p.Glu396Lys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001964092] Chr1:150092018 [GRCh38]
Chr1:150064112 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.457G>A (p.Ala153Thr) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001967919] Chr1:150077112 [GRCh38]
Chr1:150049190 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1543G>A (p.Ala515Thr) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002022956] Chr1:150110545 [GRCh38]
Chr1:150082660 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.404A>G (p.His135Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002009115] Chr1:150076950 [GRCh38]
Chr1:150049028 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.269A>G (p.Lys90Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001986309] Chr1:150072206 [GRCh38]
Chr1:150044273 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.115T>A (p.Tyr39Asn) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001914970] Chr1:150068651 [GRCh38]
Chr1:150040708 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.777A>T (p.Leu259Phe) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002005066] Chr1:150081431 [GRCh38]
Chr1:150053513 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1568G>T (p.Arg523Leu) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002039962] Chr1:150110570 [GRCh38]
Chr1:150082685 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.187A>G (p.Met63Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002040101] Chr1:150068723 [GRCh38]
Chr1:150040780 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.475A>G (p.Thr159Ala) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001895669] Chr1:150077130 [GRCh38]
Chr1:150049208 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.461A>T (p.Gln154Leu) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002022176] Chr1:150077116 [GRCh38]
Chr1:150049194 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1463C>G (p.Pro488Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001969609] Chr1:150093618 [GRCh38]
Chr1:150065714 [GRCh37]
Chr1:1q21.2
uncertain significance
NC_000001.10:g.(?_150048291)_(150082762_?)dup duplication Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001944420] Chr1:150048291..150082762 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1412A>G (p.His471Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001993833] Chr1:150093567 [GRCh38]
Chr1:150065663 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.38A>G (p.Lys13Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002038166]|Inborn genetic diseases [RCV004046184] Chr1:150067895 [GRCh38]
Chr1:150039952 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1577C>G (p.Pro526Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001886575] Chr1:150110579 [GRCh38]
Chr1:150082694 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.466T>G (p.Ser156Ala) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001931979] Chr1:150077121 [GRCh38]
Chr1:150049199 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1428T>C (p.His476=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001953924] Chr1:150093583 [GRCh38]
Chr1:150065679 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.319G>C (p.Val107Leu) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001999574] Chr1:150076262 [GRCh38]
Chr1:150048340 [GRCh37]
Chr1:1q21.2
uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1
uncertain significance
NM_007259.5(VPS45):c.690G>T (p.Trp230Cys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001955425] Chr1:150081344 [GRCh38]
Chr1:150053426 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.93G>A (p.Thr31=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001976474] Chr1:150067950 [GRCh38]
Chr1:150040007 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1141G>A (p.Glu381Lys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001922896] Chr1:150091973 [GRCh38]
Chr1:150064067 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.821A>G (p.Asn274Ser) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002029622] Chr1:150081475 [GRCh38]
Chr1:150053557 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.576+4T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001931572] Chr1:150077235 [GRCh38]
Chr1:150049313 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1344C>T (p.Ile448=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001956450] Chr1:150092382 [GRCh38]
Chr1:150064476 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.312G>C (p.Lys104Asn) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001884035] Chr1:150076255 [GRCh38]
Chr1:150048333 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.926C>T (p.Ala309Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001932152] Chr1:150081987 [GRCh38]
Chr1:150054069 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.352G>A (p.Val118Ile) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001897064] Chr1:150076295 [GRCh38]
Chr1:150048373 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.220C>T (p.Pro74Ser) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002050079] Chr1:150068756 [GRCh38]
Chr1:150040813 [GRCh37]
Chr1:1q21.2
uncertain significance
NC_000001.10:g.(?_150044213)_(150477474_?)dup duplication Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001920742] Chr1:150044213..150477474 [GRCh37]
Chr1:1q21.2-21.3
uncertain significance
NM_007259.5(VPS45):c.1476C>G (p.Pro492=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002210426] Chr1:150093631 [GRCh38]
Chr1:150065727 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1105-10C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002146913] Chr1:150091927 [GRCh38]
Chr1:150064021 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.456A>G (p.Pro152=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002185173]|not provided [RCV004711757] Chr1:150077111 [GRCh38]
Chr1:150049189 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.229-10C>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002147754] Chr1:150072156 [GRCh38]
Chr1:150044223 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1347C>A (p.Thr449=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002191653] Chr1:150092385 [GRCh38]
Chr1:150064479 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.474A>T (p.Thr158=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002106449] Chr1:150077129 [GRCh38]
Chr1:150049207 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.229-19C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002111641] Chr1:150072147 [GRCh38]
Chr1:150044214 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1041G>A (p.Leu347=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002169884] Chr1:150082820 [GRCh38]
Chr1:150054904 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.133C>T (p.Leu45=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002204992] Chr1:150068669 [GRCh38]
Chr1:150040726 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.439-14T>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002107765] Chr1:150077080 [GRCh38]
Chr1:150049158 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.439-6A>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002147272] Chr1:150077088 [GRCh38]
Chr1:150049166 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.370-9T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002087168] Chr1:150076907 [GRCh38]
Chr1:150048985 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1105-12A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002086901] Chr1:150091925 [GRCh38]
Chr1:150064019 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.747T>G (p.Leu249=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002167453] Chr1:150081401 [GRCh38]
Chr1:150053483 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.246T>C (p.Ile82=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002188961] Chr1:150072183 [GRCh38]
Chr1:150044250 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.357G>A (p.Val119=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002149992] Chr1:150076300 [GRCh38]
Chr1:150048378 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1326C>T (p.Pro442=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002130715] Chr1:150092364 [GRCh38]
Chr1:150064458 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.823-8T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002094415] Chr1:150081876 [GRCh38]
Chr1:150053958 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1264-14C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002131647] Chr1:150092288 [GRCh38]
Chr1:150064382 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.438+7A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002172204] Chr1:150076991 [GRCh38]
Chr1:150049069 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1002G>C (p.Val334=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002091646] Chr1:150082781 [GRCh38]
Chr1:150054865 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.823-11C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002195089] Chr1:150081873 [GRCh38]
Chr1:150053955 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1467T>C (p.Tyr489=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002187423]|not specified [RCV003151382] Chr1:150093622 [GRCh38]
Chr1:150065718 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1371+10TC[3] microsatellite Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002153263] Chr1:150092418..150092419 [GRCh38]
Chr1:150064512..150064513 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1493+12A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002134700] Chr1:150093660 [GRCh38]
Chr1:150065756 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.921A>C (p.Ser307=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002149694] Chr1:150081982 [GRCh38]
Chr1:150054064 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1299A>C (p.Arg433=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002171874] Chr1:150092337 [GRCh38]
Chr1:150064431 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.372A>G (p.Glu124=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002151977] Chr1:150076918 [GRCh38]
Chr1:150048996 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1359C>A (p.Leu453=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002115444] Chr1:150092397 [GRCh38]
Chr1:150064491 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.823-7T>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002112639] Chr1:150081877 [GRCh38]
Chr1:150053959 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1105-5T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002077124] Chr1:150091932 [GRCh38]
Chr1:150064026 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1625+19T>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002106088] Chr1:150110646 [GRCh38]
Chr1:150082761 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1372-7G>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002165276] Chr1:150093520 [GRCh38]
Chr1:150065616 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1626-5A>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002079763] Chr1:150144704 [GRCh38]
Chr1:150116882 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1372-9_1372-8del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002134018] Chr1:150093518..150093519 [GRCh38]
Chr1:150065614..150065615 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.679C>T (p.Leu227=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002150835] Chr1:150077771 [GRCh38]
Chr1:150049849 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.369+7A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002151479] Chr1:150076319 [GRCh38]
Chr1:150048397 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.93+19A>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002215041] Chr1:150067969 [GRCh38]
Chr1:150040026 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.94-5T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002155679] Chr1:150068625 [GRCh38]
Chr1:150040682 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.936+16A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002179158] Chr1:150082013 [GRCh38]
Chr1:150054095 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.930C>T (p.Asp310=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002081879] Chr1:150081991 [GRCh38]
Chr1:150054073 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.135A>G (p.Leu45=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002219433] Chr1:150068671 [GRCh38]
Chr1:150040728 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.937-10C>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002175496] Chr1:150082706 [GRCh38]
Chr1:150054790 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1212A>G (p.Pro404=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002135587] Chr1:150092044 [GRCh38]
Chr1:150064138 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.399C>T (p.Asn133=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002120551] Chr1:150076945 [GRCh38]
Chr1:150049023 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1560C>T (p.Asn520=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002164449] Chr1:150110562 [GRCh38]
Chr1:150082677 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.937-16G>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002122729] Chr1:150082700 [GRCh38]
Chr1:150054784 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.537C>T (p.Leu179=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002159165] Chr1:150077192 [GRCh38]
Chr1:150049270 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.577-17T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002157528] Chr1:150077652 [GRCh38]
Chr1:150049730 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.27G>A (p.Gln9=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002220355] Chr1:150067884 [GRCh38]
Chr1:150039941 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.822+7G>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002161183] Chr1:150081483 [GRCh38]
Chr1:150053565 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.822+9T>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002161423] Chr1:150081485 [GRCh38]
Chr1:150053567 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.937-8C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002082407] Chr1:150082708 [GRCh38]
Chr1:150054792 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.290-13T>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002083920] Chr1:150076220 [GRCh38]
Chr1:150048298 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1179A>G (p.Leu393=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002183713] Chr1:150092011 [GRCh38]
Chr1:150064105 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.204A>G (p.Ala68=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002163223] Chr1:150068740 [GRCh38]
Chr1:150040797 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.369+9_369+10del microsatellite Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002157676] Chr1:150076319..150076320 [GRCh38]
Chr1:150048397..150048398 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.290-18C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003110756] Chr1:150076215 [GRCh38]
Chr1:150048293 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.239A>T (p.Asp80Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003111883] Chr1:150072176 [GRCh38]
Chr1:150044243 [GRCh37]
Chr1:1q21.2
uncertain significance
NC_000001.10:g.(?_150039915)_(150464158_?)dup duplication not provided [RCV003113570] Chr1:150039915..150464158 [GRCh37]
Chr1:1q21.2-21.3
uncertain significance
NM_007259.5(VPS45):c.982G>C (p.Val328Leu) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003121528] Chr1:150082761 [GRCh38]
Chr1:150054845 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.58C>T (p.Pro20Ser) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002967873] Chr1:150067915 [GRCh38]
Chr1:150039972 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1596G>A (p.Leu532=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002750711] Chr1:150110598 [GRCh38]
Chr1:150082713 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.178C>A (p.Arg60=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002862703] Chr1:150068714 [GRCh38]
Chr1:150040771 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.823-12T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002614290] Chr1:150081872 [GRCh38]
Chr1:150053954 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.823-5C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002880901] Chr1:150081879 [GRCh38]
Chr1:150053961 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1458A>C (p.Leu486=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002862283] Chr1:150093613 [GRCh38]
Chr1:150065709 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1194C>T (p.His398=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002616693] Chr1:150092026 [GRCh38]
Chr1:150064120 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.429T>C (p.Gly143=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002726527] Chr1:150076975 [GRCh38]
Chr1:150049053 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.654C>G (p.Arg218=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002996865] Chr1:150077746 [GRCh38]
Chr1:150049824 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.696T>C (p.Tyr232=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002816200] Chr1:150081350 [GRCh38]
Chr1:150053432 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.790C>T (p.Leu264=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002861939] Chr1:150081444 [GRCh38]
Chr1:150053526 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1104+8C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002858463] Chr1:150082891 [GRCh38]
Chr1:150054975 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.531T>C (p.Tyr177=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003074599] Chr1:150077186 [GRCh38]
Chr1:150049264 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.57G>A (p.Gly19=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002616335]|VPS45-related disorder [RCV003953931] Chr1:150067914 [GRCh38]
Chr1:150039971 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.96T>C (p.Thr32=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002838632] Chr1:150068632 [GRCh38]
Chr1:150040689 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.246T>A (p.Ile82=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002750645] Chr1:150072183 [GRCh38]
Chr1:150044250 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.348G>A (p.Gln116=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002750657] Chr1:150076291 [GRCh38]
Chr1:150048369 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1154C>T (p.Ala385Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003098931] Chr1:150091986 [GRCh38]
Chr1:150064080 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1594C>T (p.Leu532=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002974792] Chr1:150110596 [GRCh38]
Chr1:150082711 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.714A>G (p.Glu238=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002947688] Chr1:150081368 [GRCh38]
Chr1:150053450 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.289+19T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002995919] Chr1:150072245 [GRCh38]
Chr1:150044312 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1500G>A (p.Gln500=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003075730] Chr1:150110502 [GRCh38]
Chr1:150082617 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1263+7A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002740232] Chr1:150092102 [GRCh38]
Chr1:150064196 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1021T>C (p.Leu341=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002797186] Chr1:150082800 [GRCh38]
Chr1:150054884 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.304A>G (p.Ile102Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003054648] Chr1:150076247 [GRCh38]
Chr1:150048325 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1653A>T (p.Gly551=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002825417] Chr1:150144736 [GRCh38]
Chr1:150116914 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.159A>G (p.Glu53=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002867850] Chr1:150068695 [GRCh38]
Chr1:150040752 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.405T>C (p.His135=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002785746] Chr1:150076951 [GRCh38]
Chr1:150049029 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.619A>G (p.Thr207Ala) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002825436] Chr1:150077711 [GRCh38]
Chr1:150049789 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1634A>G (p.Glu545Gly) single nucleotide variant Inborn genetic diseases [RCV002868238] Chr1:150144717 [GRCh38]
Chr1:150116895 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.822+9T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002976129] Chr1:150081485 [GRCh38]
Chr1:150053567 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1371+14C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003079906] Chr1:150092423 [GRCh38]
Chr1:150064517 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1371+13C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002912540] Chr1:150092422 [GRCh38]
Chr1:150064516 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1601_1602delinsTT (p.Gly534Val) indel Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002636331] Chr1:150110603..150110604 [GRCh38]
Chr1:150082718..150082719 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.573T>A (p.Val191=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003038854] Chr1:150077228 [GRCh38]
Chr1:150049306 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1551A>C (p.Thr517=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002868037] Chr1:150110553 [GRCh38]
Chr1:150082668 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.228+12dup duplication Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003054822] Chr1:150068773..150068774 [GRCh38]
Chr1:150040830..150040831 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.130A>G (p.Ile44Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002820664] Chr1:150068666 [GRCh38]
Chr1:150040723 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1173T>C (p.Tyr391=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002825048] Chr1:150092005 [GRCh38]
Chr1:150064099 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.439-7C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002590610] Chr1:150077087 [GRCh38]
Chr1:150049165 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.895C>G (p.Pro299Ala) single nucleotide variant Inborn genetic diseases [RCV002757246] Chr1:150081956 [GRCh38]
Chr1:150054038 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.369+10T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002843959] Chr1:150076322 [GRCh38]
Chr1:150048400 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.194A>G (p.His65Arg) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002781316] Chr1:150068730 [GRCh38]
Chr1:150040787 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.937-11del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002923478] Chr1:150082701 [GRCh38]
Chr1:150054785 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.116A>G (p.Tyr39Cys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002570319] Chr1:150068652 [GRCh38]
Chr1:150040709 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.429T>A (p.Gly143=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002785303] Chr1:150076975 [GRCh38]
Chr1:150049053 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1372-10C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002825138] Chr1:150093517 [GRCh38]
Chr1:150065613 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1518A>T (p.Val506=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002885046] Chr1:150110520 [GRCh38]
Chr1:150082635 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1353A>G (p.Gln451=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002824213] Chr1:150092391 [GRCh38]
Chr1:150064485 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1678T>C (p.Ser560Pro) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002705919] Chr1:150144761 [GRCh38]
Chr1:150116939 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1530C>T (p.Ala510=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003018600] Chr1:150110532 [GRCh38]
Chr1:150082647 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1711_1712insA (p.Ter571=) insertion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003043167] Chr1:150144794..150144795 [GRCh38]
Chr1:150116972..150116973 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.160C>T (p.Arg54Cys) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002642785] Chr1:150068696 [GRCh38]
Chr1:150040753 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1494-15del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002830223] Chr1:150110480 [GRCh38]
Chr1:150082595 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1069C>G (p.Leu357Val) single nucleotide variant Inborn genetic diseases [RCV002698214] Chr1:150082848 [GRCh38]
Chr1:150054932 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.861A>G (p.Ile287Met) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002933277] Chr1:150081922 [GRCh38]
Chr1:150054004 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.402A>G (p.Pro134=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002957293] Chr1:150076948 [GRCh38]
Chr1:150049026 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1200C>T (p.Ser400=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002917889] Chr1:150092032 [GRCh38]
Chr1:150064126 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.370-16G>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003056579] Chr1:150076900 [GRCh38]
Chr1:150048978 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1242T>G (p.Gly414=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002700222] Chr1:150092074 [GRCh38]
Chr1:150064168 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.369+9A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002663281] Chr1:150076321 [GRCh38]
Chr1:150048399 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1461del (p.Pro488fs) deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002851967] Chr1:150093616 [GRCh38]
Chr1:150065712 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1298G>A (p.Arg433Gln) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003083677]|Inborn genetic diseases [RCV004071694] Chr1:150092336 [GRCh38]
Chr1:150064430 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1129C>A (p.Pro377Thr) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002983109] Chr1:150091961 [GRCh38]
Chr1:150064055 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1105-12A>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003059645] Chr1:150091925 [GRCh38]
Chr1:150064019 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1218A>T (p.Leu406=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002710837] Chr1:150092050 [GRCh38]
Chr1:150064144 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1371+15T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003084133] Chr1:150092424 [GRCh38]
Chr1:150064518 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.708C>G (p.Val236=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002871683] Chr1:150081362 [GRCh38]
Chr1:150053444 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1494-6T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003083518] Chr1:150110490 [GRCh38]
Chr1:150082605 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.239A>G (p.Asp80Gly) single nucleotide variant Inborn genetic diseases [RCV002742391] Chr1:150072176 [GRCh38]
Chr1:150044243 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.708C>T (p.Val236=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002644076] Chr1:150081362 [GRCh38]
Chr1:150053444 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.563C>G (p.Ala188Gly) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003039978] Chr1:150077218 [GRCh38]
Chr1:150049296 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.666C>A (p.Ala222=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002765827] Chr1:150077758 [GRCh38]
Chr1:150049836 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1263+11T>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003091750] Chr1:150092106 [GRCh38]
Chr1:150064200 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1419C>G (p.Thr473=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003043820] Chr1:150093574 [GRCh38]
Chr1:150065670 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.189G>T (p.Met63Ile) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003086891] Chr1:150068725 [GRCh38]
Chr1:150040782 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1226_1227insATTCCTGAGGAACA (p.Asp409fs) insertion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002630008] Chr1:150092057..150092058 [GRCh38]
Chr1:150064151..150064152 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.576+18C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003061450] Chr1:150077249 [GRCh38]
Chr1:150049327 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1074C>T (p.Ala358=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002833409] Chr1:150082853 [GRCh38]
Chr1:150054937 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1339G>T (p.Ala447Ser) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002628539] Chr1:150092377 [GRCh38]
Chr1:150064471 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.852T>A (p.Gly284=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003030581] Chr1:150081913 [GRCh38]
Chr1:150053995 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.687+5A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003063426] Chr1:150077784 [GRCh38]
Chr1:150049862 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1693A>G (p.Arg565Gly) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003063442]|Inborn genetic diseases [RCV004676127] Chr1:150144776 [GRCh38]
Chr1:150116954 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.301G>A (p.Val101Met) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003060763] Chr1:150076244 [GRCh38]
Chr1:150048322 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1672G>C (p.Glu558Gln) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002715537] Chr1:150144755 [GRCh38]
Chr1:150116933 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1701G>C (p.Ala567=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002833691] Chr1:150144784 [GRCh38]
Chr1:150116962 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1203T>C (p.Asn401=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002895361] Chr1:150092035 [GRCh38]
Chr1:150064129 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1134A>G (p.Lys378=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002646160] Chr1:150091966 [GRCh38]
Chr1:150064060 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.303G>T (p.Val101=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003048503] Chr1:150076246 [GRCh38]
Chr1:150048324 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1072G>A (p.Ala358Thr) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003043729] Chr1:150082851 [GRCh38]
Chr1:150054935 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.93+14T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002770913] Chr1:150067964 [GRCh38]
Chr1:150040021 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.94-16T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003093378] Chr1:150068614 [GRCh38]
Chr1:150040671 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1659C>T (p.His553=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002635547] Chr1:150144742 [GRCh38]
Chr1:150116920 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1625+15T>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002635485] Chr1:150110642 [GRCh38]
Chr1:150082757 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.528T>C (p.Arg176=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003050228] Chr1:150077183 [GRCh38]
Chr1:150049261 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.490G>A (p.Ala164Thr) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003066264] Chr1:150077145 [GRCh38]
Chr1:150049223 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1494-17A>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003071514] Chr1:150110479 [GRCh38]
Chr1:150082594 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.168T>C (p.Asp56=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002943152] Chr1:150068704 [GRCh38]
Chr1:150040761 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.936+11C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002654940] Chr1:150082008 [GRCh38]
Chr1:150054090 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1208T>C (p.Leu403Pro) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003068852] Chr1:150092040 [GRCh38]
Chr1:150064134 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1069C>A (p.Leu357Met) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002658021] Chr1:150082848 [GRCh38]
Chr1:150054932 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.982G>A (p.Val328Ile) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002942728] Chr1:150082761 [GRCh38]
Chr1:150054845 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.426G>C (p.Leu142Phe) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002633952]|Inborn genetic diseases [RCV003358118] Chr1:150076972 [GRCh38]
Chr1:150049050 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1263+16A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002607475] Chr1:150092111 [GRCh38]
Chr1:150064205 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.938C>T (p.Ala313Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV002611096] Chr1:150082717 [GRCh38]
Chr1:150054801 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1518A>G (p.Val506=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003069776] Chr1:150110520 [GRCh38]
Chr1:150082635 [GRCh37]
Chr1:1q21.2
likely benign
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1
pathogenic
NM_007259.5(VPS45):c.582G>A (p.Val194=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003873287]|VPS45-related disorder [RCV003966735] Chr1:150077674 [GRCh38]
Chr1:150049752 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.577-6C>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003875194] Chr1:150077663 [GRCh38]
Chr1:150049741 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.228+17G>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003872886] Chr1:150068781 [GRCh38]
Chr1:150040838 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1372-6T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003875241] Chr1:150093521 [GRCh38]
Chr1:150065617 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.577-13C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003880227] Chr1:150077656 [GRCh38]
Chr1:150049734 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1105-12_1105-9del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003879544] Chr1:150091922..150091925 [GRCh38]
Chr1:150064016..150064019 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1104+19G>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003881853] Chr1:150082902 [GRCh38]
Chr1:150054986 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1371+18A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003829678] Chr1:150092427 [GRCh38]
Chr1:150064521 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.369+20A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003876293] Chr1:150076332 [GRCh38]
Chr1:150048410 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1263+10T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741561] Chr1:150092105 [GRCh38]
Chr1:150064199 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1263+14A>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741576] Chr1:150092109 [GRCh38]
Chr1:150064203 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1494-14C>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741580] Chr1:150110482 [GRCh38]
Chr1:150082597 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1626-18C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741571] Chr1:150144691 [GRCh38]
Chr1:150116869 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1371+16C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581396] Chr1:150092425 [GRCh38]
Chr1:150064519 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1242T>A (p.Gly414=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582823] Chr1:150092074 [GRCh38]
Chr1:150064168 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.438+9G>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582847] Chr1:150076993 [GRCh38]
Chr1:150049071 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.87A>G (p.Lys29=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741608] Chr1:150067944 [GRCh38]
Chr1:150040001 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1372-20A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741623] Chr1:150093507 [GRCh38]
Chr1:150065603 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1105-11T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741604] Chr1:150091926 [GRCh38]
Chr1:150064020 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.290-20C>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582915] Chr1:150076213 [GRCh38]
Chr1:150048291 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.822+14A>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582783] Chr1:150081490 [GRCh38]
Chr1:150053572 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.468T>C (p.Ser156=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582975] Chr1:150077123 [GRCh38]
Chr1:150049201 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.688-16A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003834968] Chr1:150081326 [GRCh38]
Chr1:150053408 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.489A>G (p.Thr163=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741834] Chr1:150077144 [GRCh38]
Chr1:150049222 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1371+11C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741868] Chr1:150092420 [GRCh38]
Chr1:150064514 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1419C>T (p.Thr473=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741895] Chr1:150093574 [GRCh38]
Chr1:150065670 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.93+13_93+14dup duplication Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741825] Chr1:150067960..150067961 [GRCh38]
Chr1:150040017..150040018 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1626-8C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741901] Chr1:150144701 [GRCh38]
Chr1:150116879 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1266C>G (p.Leu422=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741933] Chr1:150092304 [GRCh38]
Chr1:150064398 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.936+11C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582026] Chr1:150082008 [GRCh38]
Chr1:150054090 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.540A>T (p.Ser180=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742002] Chr1:150077195 [GRCh38]
Chr1:150049273 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.290-12C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742111] Chr1:150076221 [GRCh38]
Chr1:150048299 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.289+16C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003851624] Chr1:150072242 [GRCh38]
Chr1:150044309 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.936+9A>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740706] Chr1:150082006 [GRCh38]
Chr1:150054088 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1494-14C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742064] Chr1:150110482 [GRCh38]
Chr1:150082597 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.603G>A (p.Leu201=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582216] Chr1:150077695 [GRCh38]
Chr1:150049773 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.321G>A (p.Val107=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740836] Chr1:150076264 [GRCh38]
Chr1:150048342 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1371+16C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582228] Chr1:150092425 [GRCh38]
Chr1:150064519 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.93+18C>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740843] Chr1:150067968 [GRCh38]
Chr1:150040025 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1263+13C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740961] Chr1:150092108 [GRCh38]
Chr1:150064202 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.513G>A (p.Lys171=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742226] Chr1:150077168 [GRCh38]
Chr1:150049246 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.93+16C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741013] Chr1:150067966 [GRCh38]
Chr1:150040023 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1493+18T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742288] Chr1:150093666 [GRCh38]
Chr1:150065762 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.576+7C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741009] Chr1:150077238 [GRCh38]
Chr1:150049316 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.957A>G (p.Pro319=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582375] Chr1:150082736 [GRCh38]
Chr1:150054820 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.289+15T>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742345] Chr1:150072241 [GRCh38]
Chr1:150044308 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1264-9_1264-6del microsatellite Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741074] Chr1:150092289..150092292 [GRCh38]
Chr1:150064383..150064386 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1372-8del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740950] Chr1:150093519 [GRCh38]
Chr1:150065615 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.290-12C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582442] Chr1:150076221 [GRCh38]
Chr1:150048299 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.414C>T (p.Ser138=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581107] Chr1:150076960 [GRCh38]
Chr1:150049038 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.258C>G (p.Leu86=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582464] Chr1:150072195 [GRCh38]
Chr1:150044262 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1347C>T (p.Thr449=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741362] Chr1:150092385 [GRCh38]
Chr1:150064479 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.537C>G (p.Leu179=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742493] Chr1:150077192 [GRCh38]
Chr1:150049270 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.516T>C (p.Cys172=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742435] Chr1:150077171 [GRCh38]
Chr1:150049249 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1264-14C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741433] Chr1:150092288 [GRCh38]
Chr1:150064382 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1626-4T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582704] Chr1:150144705 [GRCh38]
Chr1:150116883 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.290-19C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741430] Chr1:150076214 [GRCh38]
Chr1:150048292 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.228+7C>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741438] Chr1:150068771 [GRCh38]
Chr1:150040828 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.439-10dup duplication Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581345] Chr1:150077079..150077080 [GRCh38]
Chr1:150049157..150049158 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.1105-15del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740977] Chr1:150091921 [GRCh38]
Chr1:150064015 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.687+19G>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742251] Chr1:150077798 [GRCh38]
Chr1:150049876 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1368G>A (p.Leu456=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581531] Chr1:150092406 [GRCh38]
Chr1:150064500 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1372-9C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742309] Chr1:150093518 [GRCh38]
Chr1:150065614 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1085A>T (p.Asp362Val) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741047] Chr1:150082864 [GRCh38]
Chr1:150054948 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.832C>T (p.Leu278=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741791] Chr1:150081893 [GRCh38]
Chr1:150053975 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.942T>C (p.Phe314=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742386] Chr1:150082721 [GRCh38]
Chr1:150054805 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1264-13del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003810690] Chr1:150092289 [GRCh38]
Chr1:150064383 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1515T>C (p.Phe505=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003583063] Chr1:150110517 [GRCh38]
Chr1:150082632 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.327A>G (p.Ser109=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003817071] Chr1:150076270 [GRCh38]
Chr1:150048348 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1476C>A (p.Pro492=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003583092] Chr1:150093631 [GRCh38]
Chr1:150065727 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.363G>A (p.Glu121=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741878] Chr1:150076306 [GRCh38]
Chr1:150048384 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.936+14G>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742449] Chr1:150082011 [GRCh38]
Chr1:150054093 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.438+13A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741896] Chr1:150076997 [GRCh38]
Chr1:150049075 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1098T>C (p.Ala366=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003856319] Chr1:150082877 [GRCh38]
Chr1:150054961 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1263+11dup duplication Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741952] Chr1:150092103..150092104 [GRCh38]
Chr1:150064197..150064198 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1614C>T (p.His538=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741424] Chr1:150110616 [GRCh38]
Chr1:150082731 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.93+10C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581306] Chr1:150067960 [GRCh38]
Chr1:150040017 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.297T>C (p.Ser99=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581333] Chr1:150076240 [GRCh38]
Chr1:150048318 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.182A>C (p.Glu61Ala) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742046] Chr1:150068718 [GRCh38]
Chr1:150040775 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1374A>G (p.Gly458=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742057] Chr1:150093529 [GRCh38]
Chr1:150065625 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.94-18A>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741472] Chr1:150068612 [GRCh38]
Chr1:150040669 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.687+9C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581371] Chr1:150077788 [GRCh38]
Chr1:150049866 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.576+15A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581292] Chr1:150077246 [GRCh38]
Chr1:150049324 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1371+14_1371+16del microsatellite Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582706] Chr1:150092420..150092422 [GRCh38]
Chr1:150064514..150064516 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1512G>A (p.Val504=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740804] Chr1:150110514 [GRCh38]
Chr1:150082629 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.937-12T>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581979] Chr1:150082704 [GRCh38]
Chr1:150054788 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.948G>A (p.Glu316=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582237] Chr1:150082727 [GRCh38]
Chr1:150054811 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.370-18T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582792] Chr1:150076898 [GRCh38]
Chr1:150048976 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1392A>T (p.Thr464=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741573] Chr1:150093547 [GRCh38]
Chr1:150065643 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1122G>T (p.Leu374=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582277] Chr1:150091954 [GRCh38]
Chr1:150064048 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1104+17G>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740773] Chr1:150082900 [GRCh38]
Chr1:150054984 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.33T>C (p.Ile11=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741453] Chr1:150067890 [GRCh38]
Chr1:150039947 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1372-4T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740948] Chr1:150093523 [GRCh38]
Chr1:150065619 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1152T>A (p.Ala384=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741625] Chr1:150091984 [GRCh38]
Chr1:150064078 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1005T>A (p.Val335=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740941] Chr1:150082784 [GRCh38]
Chr1:150054868 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.294C>T (p.Phe98=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582443] Chr1:150076237 [GRCh38]
Chr1:150048315 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.993T>C (p.His331=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742357] Chr1:150082772 [GRCh38]
Chr1:150054856 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.370-15G>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740982] Chr1:150076901 [GRCh38]
Chr1:150048979 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.576+12C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741406] Chr1:150077243 [GRCh38]
Chr1:150049321 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.228+19_228+22dup duplication Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581532] Chr1:150068781..150068782 [GRCh38]
Chr1:150040838..150040839 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1389T>C (p.Tyr463=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003811384] Chr1:150093544 [GRCh38]
Chr1:150065640 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.609A>G (p.Glu203=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740974] Chr1:150077701 [GRCh38]
Chr1:150049779 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.687+20C>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740991] Chr1:150077799 [GRCh38]
Chr1:150049877 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.300T>C (p.Asn100=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582354] Chr1:150076243 [GRCh38]
Chr1:150048321 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1263+17T>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741758] Chr1:150092112 [GRCh38]
Chr1:150064206 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1372-3del deletion Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741824] Chr1:150093521 [GRCh38]
Chr1:150065617 [GRCh37]
Chr1:1q21.2
benign
NM_007259.5(VPS45):c.438+18T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581201] Chr1:150077002 [GRCh38]
Chr1:150049080 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.936+15T>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003742560] Chr1:150082012 [GRCh38]
Chr1:150054094 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1493+14G>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581252] Chr1:150093662 [GRCh38]
Chr1:150065758 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.822+16T>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003581336] Chr1:150081492 [GRCh38]
Chr1:150053574 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.600A>G (p.Glu200=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741507] Chr1:150077692 [GRCh38]
Chr1:150049770 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.720A>G (p.Leu240=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741554] Chr1:150081374 [GRCh38]
Chr1:150053456 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.438+14G>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003740969] Chr1:150076998 [GRCh38]
Chr1:150049076 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.680T>C (p.Leu227Pro) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582329] Chr1:150077772 [GRCh38]
Chr1:150049850 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.1152T>C (p.Ala384=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003583047] Chr1:150091984 [GRCh38]
Chr1:150064078 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.525T>A (p.Ile175=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003583002] Chr1:150077180 [GRCh38]
Chr1:150049258 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.219A>C (p.Arg73=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741098] Chr1:150068755 [GRCh38]
Chr1:150040812 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.564A>T (p.Ala188=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582460] Chr1:150077219 [GRCh38]
Chr1:150049297 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.591A>G (p.Lys197=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741879] Chr1:150077683 [GRCh38]
Chr1:150049761 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.270A>G (p.Lys90=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003583123] Chr1:150072207 [GRCh38]
Chr1:150044274 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1533C>T (p.Thr511=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003582196] Chr1:150110535 [GRCh38]
Chr1:150082650 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1104+14G>A single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003836470] Chr1:150082897 [GRCh38]
Chr1:150054981 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1626-17C>T single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003741451] Chr1:150144692 [GRCh38]
Chr1:150116870 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.290-18C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003857807] Chr1:150076215 [GRCh38]
Chr1:150048293 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1105-14C>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003858378] Chr1:150091923 [GRCh38]
Chr1:150064017 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.576+20T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003822857] Chr1:150077251 [GRCh38]
Chr1:150049329 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.936+12A>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003822424] Chr1:150082009 [GRCh38]
Chr1:150054091 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1092T>C (p.Ser364=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003872382] Chr1:150082871 [GRCh38]
Chr1:150054955 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.823-20T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003870721] Chr1:150081864 [GRCh38]
Chr1:150053946 [GRCh37]
Chr1:1q21.2
likely benign
GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1 copy number loss not specified [RCV003986097] Chr1:149713775..150385573 [GRCh37]
Chr1:1q21.2-21.3
pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
NM_007259.5(VPS45):c.93+17T>G single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003846234] Chr1:150067967 [GRCh38]
Chr1:150040024 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.823-13T>C single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003864748] Chr1:150081871 [GRCh38]
Chr1:150053953 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.634T>C (p.Leu212=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003870878] Chr1:150077726 [GRCh38]
Chr1:150049804 [GRCh37]
Chr1:1q21.2
likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
NM_007259.5(VPS45):c.1269G>A (p.Val423=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003847599] Chr1:150092307 [GRCh38]
Chr1:150064401 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1443G>A (p.Arg481=) single nucleotide variant Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV003858763] Chr1:150093598 [GRCh38]
Chr1:150065694 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.-3G>T single nucleotide variant not provided [RCV003886892] Chr1:150067855 [GRCh38]
Chr1:150039912 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.594A>G (p.Glu198=) single nucleotide variant VPS45-related disorder [RCV003937246] Chr1:150077686 [GRCh38]
Chr1:150049764 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.648A>G (p.Leu216=) single nucleotide variant not provided [RCV003884120] Chr1:150077740 [GRCh38]
Chr1:150049818 [GRCh37]
Chr1:1q21.2
likely benign
NM_007259.5(VPS45):c.1322G>T (p.Ser441Ile) single nucleotide variant Inborn genetic diseases [RCV004482870] Chr1:150092360 [GRCh38]
Chr1:150064454 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.146T>C (p.Val49Ala) single nucleotide variant Inborn genetic diseases [RCV004482871] Chr1:150068682 [GRCh38]
Chr1:150040739 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.242A>G (p.Tyr81Cys) single nucleotide variant Inborn genetic diseases [RCV004482872] Chr1:150072179 [GRCh38]
Chr1:150044246 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.431G>C (p.Cys144Ser) single nucleotide variant Inborn genetic diseases [RCV004482873] Chr1:150076977 [GRCh38]
Chr1:150049055 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.550G>C (p.Ala184Pro) single nucleotide variant Inborn genetic diseases [RCV004482874] Chr1:150077205 [GRCh38]
Chr1:150049283 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.761G>C (p.Gly254Ala) single nucleotide variant Inborn genetic diseases [RCV004482875] Chr1:150081415 [GRCh38]
Chr1:150053497 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.752G>A (p.Arg251Lys) single nucleotide variant Inborn genetic diseases [RCV004683252] Chr1:150081406 [GRCh38]
Chr1:150053488 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_007259.5(VPS45):c.353T>C (p.Val118Ala) single nucleotide variant Inborn genetic diseases [RCV004683253] Chr1:150076296 [GRCh38]
Chr1:150048374 [GRCh37]
Chr1:1q21.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1470
Count of miRNA genes:767
Interacting mature miRNAs:876
Transcripts:ENST00000369128, ENST00000369130, ENST00000419023, ENST00000460366, ENST00000462852, ENST00000472756, ENST00000477558, ENST00000478999, ENST00000484306, ENST00000491789, ENST00000497638, ENST00000535106
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human
407337173GWAS986149_Heducational attainment QTL GWAS986149 (human)6e-14educational attainment1150081307150081308Human
407349044GWAS998020_Hunipolar depression, schizophrenia QTL GWAS998020 (human)5e-11unipolar depression, schizophrenia1150143798150143799Human
407024728GWAS673704_Huric acid measurement QTL GWAS673704 (human)0.000002uric acid measurementblood uric acid level (CMO:0000501)1150094287150094288Human
407411650GWAS1060626_Hschizophrenia QTL GWAS1060626 (human)2e-10schizophrenia1150143220150143221Human
406940026GWAS589002_Hbreast density QTL GWAS589002 (human)0.000007breast density1150129733150129734Human
406971229GWAS620205_Htrait in response to paliperidone, schizophrenia symptom severity measurement QTL GWAS620205 (human)0.000008trait in response to paliperidone, schizophrenia symptom severity measurement1150069348150069349Human
407024798GWAS673774_Huric acid measurement QTL GWAS673774 (human)0.000002uric acid measurementblood uric acid level (CMO:0000501)1150141905150141906Human
407233978GWAS882954_Hbody fat percentage QTL GWAS882954 (human)4e-08body fat percentagebody fat percentage (CMO:0000302)1150083277150083278Human

Markers in Region
D1S3029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,117,302 - 150,117,460UniSTSGRCh37
Build 361148,383,926 - 148,384,084RGDNCBI36
Celera1123,233,021 - 123,233,179RGD
Cytogenetic Map1q21.2UniSTS
HuRef1121,497,179 - 121,497,337UniSTS
Whitehead-YAC Contig Map1 UniSTS
WI-14283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,117,340 - 150,117,489UniSTSGRCh37
Build 361148,383,964 - 148,384,113RGDNCBI36
Celera1123,233,059 - 123,233,208RGD
Cytogenetic Map1q21.2UniSTS
HuRef1121,497,217 - 121,497,366UniSTS
GeneMap99-GB4 RH Map1538.38UniSTS
Whitehead-RH Map1635.7UniSTS
NCBI RH Map11046.4UniSTS
VPS45A_9258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,116,886 - 150,117,646UniSTSGRCh37
Build 361148,383,510 - 148,384,270RGDNCBI36
Celera1123,232,605 - 123,233,365RGD
HuRef1121,496,763 - 121,497,523UniSTS
G34838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,092,203 - 150,092,401UniSTSGRCh37
Build 361148,358,827 - 148,359,025RGDNCBI36
Celera1123,207,951 - 123,208,148RGD
Cytogenetic Map1q21.2UniSTS
HuRef1121,472,136 - 121,472,333UniSTS
D1S3132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,092,203 - 150,092,361UniSTSGRCh37
Build 361148,358,827 - 148,358,985RGDNCBI36
Celera1123,207,951 - 123,208,108RGD
Cytogenetic Map1q21.2UniSTS
HuRef1121,472,136 - 121,472,293UniSTS
RH11755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,117,234 - 150,117,476UniSTSGRCh37
Build 361148,383,858 - 148,384,100RGDNCBI36
Celera1123,232,953 - 123,233,195RGD
Cytogenetic Map1q21.2UniSTS
HuRef1121,497,111 - 121,497,353UniSTS
GeneMap99-GB4 RH Map1542.25UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001279353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001279354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC242988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF165513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW243680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY453586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG176899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR743023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA122826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA374440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000369128   ⟹   ENSP00000358124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,382 - 150,145,288 (+)Ensembl
Ensembl Acc Id: ENST00000419023   ⟹   ENSP00000400143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,847 - 150,145,312 (+)Ensembl
Ensembl Acc Id: ENST00000460366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,835 - 150,099,819 (+)Ensembl
Ensembl Acc Id: ENST00000462852   ⟹   ENSP00000481356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,348 - 150,081,926 (+)Ensembl
Ensembl Acc Id: ENST00000472756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,092,005 - 150,092,562 (+)Ensembl
Ensembl Acc Id: ENST00000477558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,790 - 150,145,312 (+)Ensembl
Ensembl Acc Id: ENST00000478999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,369 - 150,068,859 (+)Ensembl
Ensembl Acc Id: ENST00000491789   ⟹   ENSP00000494741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,807 - 150,145,253 (+)Ensembl
Ensembl Acc Id: ENST00000497638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,787 - 150,145,312 (+)Ensembl
Ensembl Acc Id: ENST00000535106   ⟹   ENSP00000440690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,293 - 150,145,326 (+)Ensembl
Ensembl Acc Id: ENST00000611412   ⟹   ENSP00000478403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,668 - 150,145,326 (+)Ensembl
Ensembl Acc Id: ENST00000618148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,109,175 - 150,144,925 (+)Ensembl
Ensembl Acc Id: ENST00000642919   ⟹   ENSP00000494763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,145,323 (+)Ensembl
Ensembl Acc Id: ENST00000643611   ⟹   ENSP00000496312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,799 - 150,068,859 (+)Ensembl
Ensembl Acc Id: ENST00000643970   ⟹   ENSP00000495148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,279 - 150,145,323 (+)Ensembl
Ensembl Acc Id: ENST00000644510   ⟹   ENSP00000495563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,776 - 150,145,329 (+)Ensembl
Ensembl Acc Id: ENST00000644526   ⟹   ENSP00000494363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,145,329 (+)Ensembl
Ensembl Acc Id: ENST00000644704   ⟹   ENSP00000495981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,083,307 (+)Ensembl
Ensembl Acc Id: ENST00000647278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,068,029 - 150,076,264 (+)Ensembl
Ensembl Acc Id: ENST00000698523   ⟹   ENSP00000513772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,496 - 150,145,285 (+)Ensembl
Ensembl Acc Id: ENST00000698527   ⟹   ENSP00000513776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,695 - 150,088,433 (+)Ensembl
Ensembl Acc Id: ENST00000698528   ⟹   ENSP00000513777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,695 - 150,145,309 (+)Ensembl
Ensembl Acc Id: ENST00000698529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,094,749 (+)Ensembl
Ensembl Acc Id: ENST00000698530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,099,318 (+)Ensembl
Ensembl Acc Id: ENST00000698531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,099,824 (+)Ensembl
Ensembl Acc Id: ENST00000698532   ⟹   ENSP00000513778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,776 - 150,145,312 (+)Ensembl
Ensembl Acc Id: ENST00000698533   ⟹   ENSP00000513779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,776 - 150,145,312 (+)Ensembl
Ensembl Acc Id: ENST00000698534   ⟹   ENSP00000513780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,776 - 150,145,329 (+)Ensembl
Ensembl Acc Id: ENST00000698578   ⟹   ENSP00000513807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,111,973 (+)Ensembl
Ensembl Acc Id: ENST00000698579   ⟹   ENSP00000513808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,111,974 (+)Ensembl
Ensembl Acc Id: ENST00000698580   ⟹   ENSP00000513809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,129,202 (+)Ensembl
Ensembl Acc Id: ENST00000698581   ⟹   ENSP00000513810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,129,202 (+)Ensembl
Ensembl Acc Id: ENST00000698582   ⟹   ENSP00000513811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,145,286 (+)Ensembl
Ensembl Acc Id: ENST00000698583   ⟹   ENSP00000513812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,145,289 (+)Ensembl
Ensembl Acc Id: ENST00000698584   ⟹   ENSP00000513813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,145,292 (+)Ensembl
Ensembl Acc Id: ENST00000698585   ⟹   ENSP00000513814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,145,309 (+)Ensembl
Ensembl Acc Id: ENST00000698586   ⟹   ENSP00000513815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,145,323 (+)Ensembl
Ensembl Acc Id: ENST00000698587   ⟹   ENSP00000513816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,736 - 150,145,323 (+)Ensembl
Ensembl Acc Id: ENST00000698588   ⟹   ENSP00000513817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,751 - 150,145,309 (+)Ensembl
Ensembl Acc Id: ENST00000698589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,751 - 150,145,312 (+)Ensembl
Ensembl Acc Id: ENST00000698590   ⟹   ENSP00000513818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,762 - 150,145,312 (+)Ensembl
Ensembl Acc Id: ENST00000698591   ⟹   ENSP00000513819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,772 - 150,112,265 (+)Ensembl
Ensembl Acc Id: ENST00000698592   ⟹   ENSP00000513820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,772 - 150,145,309 (+)Ensembl
Ensembl Acc Id: ENST00000698593   ⟹   ENSP00000513821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,776 - 150,145,309 (+)Ensembl
Ensembl Acc Id: ENST00000698594   ⟹   ENSP00000513822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,776 - 150,145,312 (+)Ensembl
Ensembl Acc Id: ENST00000698595   ⟹   ENSP00000513823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,776 - 150,145,329 (+)Ensembl
Ensembl Acc Id: ENST00000698596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,787 - 150,145,309 (+)Ensembl
Ensembl Acc Id: ENST00000698597   ⟹   ENSP00000513824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,802 - 150,145,312 (+)Ensembl
Ensembl Acc Id: ENST00000698598   ⟹   ENSP00000513825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,067,804 - 150,145,329 (+)Ensembl
RefSeq Acc Id: NM_001279353   ⟹   NP_001266282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,067,382 - 150,145,329 (+)NCBI
GRCh371150,039,350 - 150,117,505 (+)NCBI
HuRef1121,419,253 - 121,497,382 (+)NCBI
CHM1_11151,435,419 - 151,513,453 (+)NCBI
T2T-CHM13v2.01149,191,963 - 149,270,002 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001279354   ⟹   NP_001266283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,067,776 - 150,145,329 (+)NCBI
GRCh371150,039,350 - 150,117,505 (+)NCBI
HuRef1121,419,253 - 121,497,382 (+)NCBI
CHM1_11151,435,794 - 151,513,453 (+)NCBI
T2T-CHM13v2.01149,192,357 - 149,270,002 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007259   ⟹   NP_009190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,067,776 - 150,145,329 (+)NCBI
GRCh371150,039,350 - 150,117,505 (+)NCBI
Build 361148,305,966 - 148,384,129 (+)NCBI Archive
Celera1123,155,097 - 123,233,224 (+)RGD
HuRef1121,419,253 - 121,497,382 (+)NCBI
CHM1_11151,435,419 - 151,513,453 (+)NCBI
T2T-CHM13v2.01149,192,357 - 149,270,002 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103998
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,067,776 - 150,145,329 (+)NCBI
GRCh371150,039,350 - 150,117,505 (+)NCBI
HuRef1121,419,253 - 121,497,382 (+)NCBI
CHM1_11151,435,794 - 151,513,453 (+)NCBI
T2T-CHM13v2.01149,192,357 - 149,270,002 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452791   ⟹   XP_024308559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,067,382 - 150,145,329 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054334044   ⟹   XP_054190019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,192,105 - 149,270,002 (+)NCBI
RefSeq Acc Id: XR_007069452
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,067,776 - 150,110,627 (+)NCBI
RefSeq Acc Id: XR_008485883
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,192,357 - 149,235,246 (+)NCBI
RefSeq Acc Id: XR_008485884
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,192,357 - 149,216,619 (+)NCBI
RefSeq Acc Id: XR_921734
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,067,776 - 150,092,008 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001266282 (Get FASTA)   NCBI Sequence Viewer  
  NP_001266283 (Get FASTA)   NCBI Sequence Viewer  
  NP_009190 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308559 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190019 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50931 (Get FASTA)   NCBI Sequence Viewer  
  AAF86643 (Get FASTA)   NCBI Sequence Viewer  
  AAH12932 (Get FASTA)   NCBI Sequence Viewer  
  AAH28382 (Get FASTA)   NCBI Sequence Viewer  
  AAS49034 (Get FASTA)   NCBI Sequence Viewer  
  BAB14443 (Get FASTA)   NCBI Sequence Viewer  
  BAD96934 (Get FASTA)   NCBI Sequence Viewer  
  BAH11533 (Get FASTA)   NCBI Sequence Viewer  
  BAH12096 (Get FASTA)   NCBI Sequence Viewer  
  BAH12870 (Get FASTA)   NCBI Sequence Viewer  
  BAH12880 (Get FASTA)   NCBI Sequence Viewer  
  BAH13603 (Get FASTA)   NCBI Sequence Viewer  
  CAB40417 (Get FASTA)   NCBI Sequence Viewer  
  CAI14265 (Get FASTA)   NCBI Sequence Viewer  
  CAI14266 (Get FASTA)   NCBI Sequence Viewer  
  EAW53584 (Get FASTA)   NCBI Sequence Viewer  
  EAW53585 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000358124
  ENSP00000358124.5
  ENSP00000400143.3
  ENSP00000481356.1
  ENSP00000494363.1
  ENSP00000494741.1
  ENSP00000494763.1
  ENSP00000495148
  ENSP00000495148.1
  ENSP00000495563
  ENSP00000495563.1
  ENSP00000495981.2
  ENSP00000496312.1
  ENSP00000513772.1
  ENSP00000513776.1
  ENSP00000513777.1
  ENSP00000513778.1
  ENSP00000513779.1
  ENSP00000513780.1
  ENSP00000513807.1
  ENSP00000513808.1
  ENSP00000513809.1
  ENSP00000513810.1
  ENSP00000513811.1
  ENSP00000513812.1
  ENSP00000513813.1
  ENSP00000513814.1
  ENSP00000513815.1
  ENSP00000513816.1
  ENSP00000513817.1
  ENSP00000513818.1
  ENSP00000513819.1
  ENSP00000513820.1
  ENSP00000513821.1
  ENSP00000513822.1
  ENSP00000513823.1
  ENSP00000513824.1
  ENSP00000513825.1
GenBank Protein Q9NRW7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_009190   ⟸   NM_007259
- Peptide Label: isoform 1
- UniProtKB: Q5T4P6 (UniProtKB/Swiss-Prot),   Q53FR8 (UniProtKB/Swiss-Prot),   Q15715 (UniProtKB/Swiss-Prot),   F5H8K1 (UniProtKB/Swiss-Prot),   D3DUZ9 (UniProtKB/Swiss-Prot),   Q9Y4Z6 (UniProtKB/Swiss-Prot),   Q9NRW7 (UniProtKB/Swiss-Prot),   A0A8V8TM05 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001266282   ⟸   NM_001279353
- Peptide Label: isoform 2
- UniProtKB: B7Z5D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001266283   ⟸   NM_001279354
- Peptide Label: isoform 3
- UniProtKB: B7Z360 (UniProtKB/TrEMBL),   A0A2R8YE10 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308559   ⟸   XM_024452791
- Peptide Label: isoform X1
- UniProtKB: A0A2R8YE10 (UniProtKB/TrEMBL),   B7Z360 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000481356   ⟸   ENST00000462852
Ensembl Acc Id: ENSP00000494741   ⟸   ENST00000491789
Ensembl Acc Id: ENSP00000478403   ⟸   ENST00000611412
Ensembl Acc Id: ENSP00000440690   ⟸   ENST00000535106
Ensembl Acc Id: ENSP00000400143   ⟸   ENST00000419023
Ensembl Acc Id: ENSP00000494763   ⟸   ENST00000642919
Ensembl Acc Id: ENSP00000496312   ⟸   ENST00000643611
Ensembl Acc Id: ENSP00000495148   ⟸   ENST00000643970
Ensembl Acc Id: ENSP00000494363   ⟸   ENST00000644526
Ensembl Acc Id: ENSP00000495563   ⟸   ENST00000644510
Ensembl Acc Id: ENSP00000495981   ⟸   ENST00000644704
Ensembl Acc Id: ENSP00000358124   ⟸   ENST00000369128
Ensembl Acc Id: ENSP00000513813   ⟸   ENST00000698584
Ensembl Acc Id: ENSP00000513778   ⟸   ENST00000698532
Ensembl Acc Id: ENSP00000513823   ⟸   ENST00000698595
Ensembl Acc Id: ENSP00000513810   ⟸   ENST00000698581
Ensembl Acc Id: ENSP00000513772   ⟸   ENST00000698523
Ensembl Acc Id: ENSP00000513824   ⟸   ENST00000698597
Ensembl Acc Id: ENSP00000513809   ⟸   ENST00000698580
Ensembl Acc Id: ENSP00000513815   ⟸   ENST00000698586
Ensembl Acc Id: ENSP00000513807   ⟸   ENST00000698578
Ensembl Acc Id: ENSP00000513779   ⟸   ENST00000698533
Ensembl Acc Id: ENSP00000513817   ⟸   ENST00000698588
Ensembl Acc Id: ENSP00000513777   ⟸   ENST00000698528
Ensembl Acc Id: ENSP00000513776   ⟸   ENST00000698527
Ensembl Acc Id: ENSP00000513808   ⟸   ENST00000698579
Ensembl Acc Id: ENSP00000513780   ⟸   ENST00000698534
Ensembl Acc Id: ENSP00000513811   ⟸   ENST00000698582
Ensembl Acc Id: ENSP00000513820   ⟸   ENST00000698592
Ensembl Acc Id: ENSP00000513825   ⟸   ENST00000698598
Ensembl Acc Id: ENSP00000513814   ⟸   ENST00000698585
Ensembl Acc Id: ENSP00000513822   ⟸   ENST00000698594
Ensembl Acc Id: ENSP00000513818   ⟸   ENST00000698590
Ensembl Acc Id: ENSP00000513821   ⟸   ENST00000698593
Ensembl Acc Id: ENSP00000513819   ⟸   ENST00000698591
Ensembl Acc Id: ENSP00000513816   ⟸   ENST00000698587
Ensembl Acc Id: ENSP00000513812   ⟸   ENST00000698583
RefSeq Acc Id: XP_054190019   ⟸   XM_054334044
- Peptide Label: isoform X1
- UniProtKB: A0A2R8YE10 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRW7-F1-model_v2 AlphaFold Q9NRW7 1-570 view protein structure

Promoters
RGD ID:6787220
Promoter ID:HG_KWN:4897
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:ENST00000369128,   NM_007259,   OTTHUMT00000034967,   OTTHUMT00000034968,   OTTHUMT00000034969,   OTTHUMT00000034970,   OTTHUMT00000095849,   UC009WLM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361148,305,771 - 148,306,387 (+)MPROMDB
RGD ID:6787215
Promoter ID:HG_KWN:4901
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000034965
Position:
Human AssemblyChrPosition (strand)Source
Build 361148,348,409 - 148,348,909 (+)MPROMDB
RGD ID:6856938
Promoter ID:EPDNEW_H1634
Type:initiation region
Name:VPS45_2
Description:vacuolar protein sorting 45 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1636  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,067,312 - 150,067,372EPDNEW
RGD ID:6856942
Promoter ID:EPDNEW_H1636
Type:initiation region
Name:VPS45_1
Description:vacuolar protein sorting 45 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1634  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,067,787 - 150,067,847EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14579 AgrOrtholog
COSMIC VPS45 COSMIC
Ensembl Genes ENSG00000136631 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000369128 ENTREZGENE
  ENST00000369128.9 UniProtKB/Swiss-Prot
  ENST00000419023.4 UniProtKB/TrEMBL
  ENST00000462852.5 UniProtKB/TrEMBL
  ENST00000491789 ENTREZGENE
  ENST00000491789.2 UniProtKB/TrEMBL
  ENST00000642919.2 UniProtKB/TrEMBL
  ENST00000643611.1 UniProtKB/TrEMBL
  ENST00000643970 ENTREZGENE
  ENST00000643970.2 UniProtKB/TrEMBL
  ENST00000644510 ENTREZGENE
  ENST00000644510.2 UniProtKB/Swiss-Prot
  ENST00000644526.2 UniProtKB/TrEMBL
  ENST00000644704.2 UniProtKB/TrEMBL
  ENST00000698523.1 UniProtKB/TrEMBL
  ENST00000698527.1 UniProtKB/TrEMBL
  ENST00000698528.1 UniProtKB/TrEMBL
  ENST00000698532.1 UniProtKB/TrEMBL
  ENST00000698533.1 UniProtKB/TrEMBL
  ENST00000698534.1 UniProtKB/TrEMBL
  ENST00000698578.1 UniProtKB/TrEMBL
  ENST00000698579.1 UniProtKB/TrEMBL
  ENST00000698580.1 UniProtKB/TrEMBL
  ENST00000698581.1 UniProtKB/TrEMBL
  ENST00000698582.1 UniProtKB/TrEMBL
  ENST00000698583.1 UniProtKB/TrEMBL
  ENST00000698584.1 UniProtKB/TrEMBL
  ENST00000698585.1 UniProtKB/TrEMBL
  ENST00000698586.1 UniProtKB/TrEMBL
  ENST00000698587.1 UniProtKB/TrEMBL
  ENST00000698588.1 UniProtKB/TrEMBL
  ENST00000698590.1 UniProtKB/TrEMBL
  ENST00000698591.1 UniProtKB/TrEMBL
  ENST00000698592.1 UniProtKB/TrEMBL
  ENST00000698593.1 UniProtKB/TrEMBL
  ENST00000698594.1 UniProtKB/TrEMBL
  ENST00000698595.1 UniProtKB/TrEMBL
  ENST00000698597.1 UniProtKB/TrEMBL
  ENST00000698598.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1910 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.2060 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136631 GTEx
HGNC ID HGNC:14579 ENTREZGENE
Human Proteome Map VPS45 Human Proteome Map
InterPro Sec-1-like_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec-1-like_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec-1-like_dom3a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec1-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11311 UniProtKB/Swiss-Prot
NCBI Gene 11311 ENTREZGENE
OMIM 610035 OMIM
PANTHER PTHR11679 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VACUOLAR PROTEIN SORTING-ASSOCIATED PROTEIN 45 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sec1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37901 PharmGKB
PIRSF VPS45_Sec1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56815 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GXI6_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7W9_HUMAN UniProtKB/TrEMBL
  A0A2R8YD95_HUMAN UniProtKB/TrEMBL
  A0A2R8YDP1_HUMAN UniProtKB/TrEMBL
  A0A2R8YE10 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YEX8_HUMAN UniProtKB/TrEMBL
  A0A2R8YF01_HUMAN UniProtKB/TrEMBL
  A0A8V8TLU0_HUMAN UniProtKB/TrEMBL
  A0A8V8TLW3_HUMAN UniProtKB/TrEMBL
  A0A8V8TLX3_HUMAN UniProtKB/TrEMBL
  A0A8V8TLX8_HUMAN UniProtKB/TrEMBL
  A0A8V8TLZ5_HUMAN UniProtKB/TrEMBL
  A0A8V8TM00_HUMAN UniProtKB/TrEMBL
  A0A8V8TM05 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TM10_HUMAN UniProtKB/TrEMBL
  A0A8V8TMC6_HUMAN UniProtKB/TrEMBL
  A0A8V8TMD1_HUMAN UniProtKB/TrEMBL
  A0A8V8TMF8_HUMAN UniProtKB/TrEMBL
  A0A8V8TMG3_HUMAN UniProtKB/TrEMBL
  A0A8V8TMG7_HUMAN UniProtKB/TrEMBL
  A0A8V8TMH2_HUMAN UniProtKB/TrEMBL
  A0A8V8TNB6_HUMAN UniProtKB/TrEMBL
  A0A8V8TNE7_HUMAN UniProtKB/TrEMBL
  A0A8V8TNF0_HUMAN UniProtKB/TrEMBL
  A0A8V8TNF5_HUMAN UniProtKB/TrEMBL
  A0A8V8TNG0_HUMAN UniProtKB/TrEMBL
  A0A8V8TNM6_HUMAN UniProtKB/TrEMBL
  A0A8V8TNQ5_HUMAN UniProtKB/TrEMBL
  A0A8V8TNR0_HUMAN UniProtKB/TrEMBL
  B7Z360 ENTREZGENE, UniProtKB/TrEMBL
  B7Z5D4 ENTREZGENE, UniProtKB/TrEMBL
  B7Z7G7_HUMAN UniProtKB/TrEMBL
  D3DUZ9 ENTREZGENE
  F5H8K1 ENTREZGENE
  Q15715 ENTREZGENE
  Q53FR8 ENTREZGENE
  Q5T4P6 ENTREZGENE
  Q5T4Q0_HUMAN UniProtKB/TrEMBL
  Q9NRW7 ENTREZGENE
  Q9Y4Z6 ENTREZGENE
  VPS45_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A0A6YYS6 UniProtKB/TrEMBL
  A0A0K0K1C6 UniProtKB/TrEMBL
  D3DUZ9 UniProtKB/Swiss-Prot
  F5H8K1 UniProtKB/Swiss-Prot
  F6UM60 UniProtKB/TrEMBL
  Q15715 UniProtKB/Swiss-Prot
  Q53FR8 UniProtKB/Swiss-Prot
  Q5T4P6 UniProtKB/Swiss-Prot
  Q9Y4Z6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 VPS45  vacuolar protein sorting 45 homolog  VPS45  vacuolar protein sorting 45 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED