VPS13C (vacuolar protein sorting 13 homolog C) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: VPS13C (vacuolar protein sorting 13 homolog C) Homo sapiens
Analyze
Symbol: VPS13C
Name: vacuolar protein sorting 13 homolog C
RGD ID: 1348377
HGNC Page HGNC:23594
Description: Involved in mitochondrion organization and negative regulation of type 2 mitophagy. Located in several cellular components, including late endosome; lipid droplet; and mitochondrial outer membrane. Implicated in Parkinson's disease 23.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BLTP5C; bridge-like lipid transfer protein family member 5C; DKFZp686E0570; FLJ21361; intermembrane lipid transfer protein VPS13C; PARK23; vacuolar protein sorting 13 homolog C (S. cerevisiae); vacuolar protein sorting 13C; vacuolar protein sorting 13c (yeast); vacuolar protein sorting-associated protein 13C
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
GRCh381561,852,389 - 62,060,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1561,852,389 - 62,060,473 (-)EnsemblGRCh38hg38GRCh38
GRCh371562,144,588 - 62,352,646 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361559,931,880 - 60,139,939 (-)NCBINCBI36Build 36hg18NCBI36
Build 341559,931,879 - 60,139,939NCBI
Celera1539,034,037 - 39,241,888 (-)NCBICelera
Cytogenetic Map15q22.2NCBI
HuRef1538,966,908 - 39,175,239 (-)NCBIHuRef
CHM1_11562,264,112 - 62,472,186 (-)NCBICHM1_1
T2T-CHM13v2.01559,655,984 - 59,864,419 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10718198   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15498460   PMID:17081983   PMID:19056867   PMID:20081857   PMID:20301402   PMID:20889312   PMID:21249489   PMID:21789219  
PMID:21873549   PMID:21873635   PMID:22581228   PMID:22956255   PMID:23382691   PMID:25064009   PMID:26030138   PMID:26186194   PMID:26389662   PMID:26496610   PMID:26942284   PMID:27329800  
PMID:27653855   PMID:28380328   PMID:28514442   PMID:28611215   PMID:28718761   PMID:28862745   PMID:29507755   PMID:29568061   PMID:29676528   PMID:30021884   PMID:30093493   PMID:30376358  
PMID:30452786   PMID:30948266   PMID:31091453   PMID:31586073   PMID:31871319   PMID:32507414   PMID:32814769   PMID:32877691   PMID:33024031   PMID:33039764   PMID:33087848   PMID:33579389  
PMID:33726789   PMID:33838259   PMID:33961781   PMID:34048709   PMID:34079125   PMID:34299191   PMID:34349018   PMID:34432599   PMID:34597346   PMID:34644545   PMID:34672954   PMID:34875562  
PMID:35013218   PMID:35256949   PMID:35271311   PMID:35337019   PMID:35543156   PMID:35657605   PMID:35844135   PMID:35858323   PMID:35906200   PMID:35944360   PMID:36215168   PMID:36517590  
PMID:37071682   PMID:37315142   PMID:37689310   PMID:37774976   PMID:38334954   PMID:38358348   PMID:39306342   PMID:39349928  


Genomics

Comparative Map Data
VPS13C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381561,852,389 - 62,060,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1561,852,389 - 62,060,473 (-)EnsemblGRCh38hg38GRCh38
GRCh371562,144,588 - 62,352,646 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361559,931,880 - 60,139,939 (-)NCBINCBI36Build 36hg18NCBI36
Build 341559,931,879 - 60,139,939NCBI
Celera1539,034,037 - 39,241,888 (-)NCBICelera
Cytogenetic Map15q22.2NCBI
HuRef1538,966,908 - 39,175,239 (-)NCBIHuRef
CHM1_11562,264,112 - 62,472,186 (-)NCBICHM1_1
T2T-CHM13v2.01559,655,984 - 59,864,419 (-)NCBIT2T-CHM13v2.0
Vps13c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39967,747,594 - 67,905,026 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl967,747,678 - 67,902,920 (+)EnsemblGRCm39 Ensembl
GRCm38967,840,316 - 67,997,744 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl967,840,396 - 67,995,638 (+)EnsemblGRCm38mm10GRCm38
MGSCv37967,688,203 - 67,843,441 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36967,639,567 - 67,796,023 (+)NCBIMGSCv36mm8
MGSCv36968,440,120 - 68,593,896 (+)NCBIMGSCv36mm8
Celera965,070,042 - 65,224,890 (+)NCBICelera
Cytogenetic Map9CNCBI
cM Map936.77NCBI
Vps13c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8877,359,499 - 77,533,009 (+)NCBIGRCr8
mRatBN7.2868,478,366 - 68,651,893 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl868,478,395 - 68,651,895 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0873,682,814 - 73,843,290 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl873,682,887 - 73,842,928 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0878,012,179 - 78,174,887 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4872,196,264 - 72,365,531 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera873,070,323 - 73,229,973 (-)NCBICelera
Cytogenetic Map8q24NCBI
Vps13c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545013,016,950 - 13,174,990 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545013,016,933 - 13,178,797 (+)NCBIChiLan1.0ChiLan1.0
VPS13C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21651,117,056 - 51,322,181 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11555,297,087 - 55,498,202 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01540,819,512 - 41,020,644 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11559,116,946 - 59,319,705 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1559,119,001 - 59,319,619 (-)Ensemblpanpan1.1panPan2
VPS13C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13026,600,181 - 26,776,347 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3026,601,513 - 26,776,763 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3026,516,146 - 26,692,465 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03026,777,160 - 26,946,615 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3026,777,169 - 26,946,615 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13026,714,979 - 26,884,285 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03026,773,728 - 26,944,232 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03027,018,883 - 27,188,026 (-)NCBIUU_Cfam_GSD_1.0
Vps13c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640104,813,396 - 104,994,087 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647122,661,447 - 22,842,150 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647122,661,899 - 22,842,144 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VPS13C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1109,931,264 - 110,104,241 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11109,931,269 - 110,105,519 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21121,361,178 - 121,530,405 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VPS13C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12621,463,393 - 21,647,944 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2621,463,657 - 21,648,603 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048119,739,546 - 119,924,207 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vps13c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478110,259,976 - 10,413,278 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478110,259,971 - 10,414,421 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VPS13C
873 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020821.3(VPS13C):c.11160+101A>T single nucleotide variant not provided [RCV001643557] Chr15:61854770 [GRCh38]
Chr15:62146969 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.2(VPS13C):c.10339-355A>C single nucleotide variant Lung cancer [RCV000099610] Chr15:61875306 [GRCh38]
Chr15:62167505 [GRCh37]
Chr15:15q22.2		 uncertain significance
GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1 copy number loss See cases [RCV000050884] Chr15:57456076..61907285 [GRCh38]
Chr15:57748274..62199484 [GRCh37]
Chr15:55535566..59986776 [NCBI36]
Chr15:15q21.3-22.2		 pathogenic
GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1 copy number loss See cases [RCV000051622] Chr15:57567950..63019415 [GRCh38]
Chr15:57860148..63311614 [GRCh37]
Chr15:55647440..61098667 [NCBI36]
Chr15:15q21.3-22.2		 pathogenic
NM_020821.2(VPS13C):c.2637T>C (p.Phe879=) single nucleotide variant Malignant melanoma [RCV000070844] Chr15:61972745 [GRCh38]
Chr15:62264944 [GRCh37]
Chr15:60052236 [NCBI36]
Chr15:15q22.2		 not provided
NM_020821.3(VPS13C):c.387C>T (p.Gly129=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV000660525]|not provided [RCV000913670] Chr15:62028419 [GRCh38]
Chr15:62320618 [GRCh37]
Chr15:15q22.2		 likely benign|uncertain significance
NC_000015.10:g.61919523_62253599dup duplication See cases [RCV001291766] Chr15:61919523..62253599 [GRCh38]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7274C>T (p.Thr2425Met) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV001332172] Chr15:61920270 [GRCh38]
Chr15:62212469 [GRCh37]
Chr15:15q22.2		 uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
NM_020821.3(VPS13C):c.10981A>C (p.Ile3661Leu) single nucleotide variant not provided [RCV002085701] Chr15:61856381 [GRCh38]
Chr15:62148580 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs) insertion Parkinson disease [RCV000236948] Chr15:62013057..62013058 [GRCh38]
Chr15:62305256..62305257 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV000210213]|Parkinson disease [RCV000235875] Chr15:61882652 [GRCh38]
Chr15:62174851 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.8445+2T>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV000210216]|Parkinson disease [RCV000236364] Chr15:61915631 [GRCh38]
Chr15:62207830 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.4777del (p.Gln1593fs) deletion Autosomal recessive early-onset Parkinson disease 23 [RCV000210222]|Parkinson disease [RCV000235403] Chr15:61947292 [GRCh38]
Chr15:62239491 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV000210217]|Parkinson disease [RCV000236463]|Young-onset Parkinson disease [RCV004017487] Chr15:61958608 [GRCh38]
Chr15:62250807 [GRCh37]
Chr15:15q22.2		 pathogenic|likely pathogenic
NM_020821.3(VPS13C):c.802_805dup (p.Arg269fs) duplication Autosomal recessive early-onset Parkinson disease 23 [RCV000210223] Chr15:62013058..62013059 [GRCh38]
Chr15:62305257..62305258 [GRCh37]
Chr15:15q22.2		 pathogenic
GRCh37/hg19 15q22.2(chr15:62128861-62340126)x1 copy number loss Thyroid hemiagenesis [RCV000488896] Chr15:62128861..62340126 [GRCh37]
Chr15:15q22.2		 likely pathogenic
GRCh37/hg19 15q22.2(chr15:62155282-62332980)x1 copy number loss Thyroid hemiagenesis [RCV000488908] Chr15:62155282..62332980 [GRCh37]
Chr15:15q22.2		 likely pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
NM_020821.3(VPS13C):c.9020G>A (p.Arg3007Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV000735671] Chr15:61907349 [GRCh38]
Chr15:62199548 [GRCh37]
Chr15:15q22.2		 uncertain significance
GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1 copy number loss See cases [RCV000446622] Chr15:54713558..62769295 [GRCh37]
Chr15:15q21.3-22.2		 pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q22.2(chr15:62242775-62501666)x3 copy number gain See cases [RCV000448941] Chr15:62242775..62501666 [GRCh37]
Chr15:15q22.2		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1 copy number loss See cases [RCV000510898] Chr15:58088503..62221756 [GRCh37]
Chr15:15q21.3-22.2		 pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q22.2(chr15:62218567-62549882)x4 copy number gain not provided [RCV000845585] Chr15:62218567..62549882 [GRCh37]
Chr15:15q22.2		 uncertain significance
GRCh37/hg19 15q22.2(chr15:62128861-62340126)x3 copy number gain not provided [RCV000751323] Chr15:62128861..62340126 [GRCh37]
Chr15:15q22.2		 benign
GRCh37/hg19 15q22.2(chr15:62128861-62358682)x3 copy number gain not provided [RCV000751324] Chr15:62128861..62358682 [GRCh37]
Chr15:15q22.2		 benign
GRCh37/hg19 15q22.2(chr15:62128861-62364932)x3 copy number gain not provided [RCV000751325] Chr15:62128861..62364932 [GRCh37]
Chr15:15q22.2		 benign
GRCh37/hg19 15q22.2(chr15:62158337-62360042)x3 copy number gain not provided [RCV000751326] Chr15:62158337..62360042 [GRCh37]
Chr15:15q22.2		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_020821.3(VPS13C):c.5060C>T (p.Ala1687Val) single nucleotide variant not provided [RCV000960067] Chr15:61945803 [GRCh38]
Chr15:62238002 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1194A>C (p.Ile398=) single nucleotide variant VPS13C-related disorder [RCV003975944]|not provided [RCV001678613] Chr15:62007404 [GRCh38]
Chr15:62299603 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1354-99dup duplication not provided [RCV001539862] Chr15:61991888..61991889 [GRCh38]
Chr15:62284087..62284088 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1367G>A (p.Gly456Glu) single nucleotide variant not provided [RCV001532754] Chr15:61991789 [GRCh38]
Chr15:62283988 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2921G>A (p.Arg974Lys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002243351]|not provided [RCV001644236] Chr15:61967438 [GRCh38]
Chr15:61967438..61967439 [GRCh38]
Chr15:62259637 [GRCh37]
Chr15:62259637..62259638 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8844+99A>G single nucleotide variant not provided [RCV001707952] Chr15:61910078 [GRCh38]
Chr15:62202277 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1914+122G>T single nucleotide variant not provided [RCV001679070] Chr15:61983698 [GRCh38]
Chr15:62275897 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2618-57_2618-56insA insertion not provided [RCV001692840] Chr15:61972820..61972821 [GRCh38]
Chr15:62265019..62265020 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10446C>T (p.Thr3482=) single nucleotide variant not provided [RCV001679215] Chr15:61873378 [GRCh38]
Chr15:62165577 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.11077-54A>T single nucleotide variant not provided [RCV001691816] Chr15:61855008 [GRCh38]
Chr15:62147207 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6609+14A>G single nucleotide variant not provided [RCV001534445] Chr15:61925442 [GRCh38]
Chr15:62217641 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9341+166G>A single nucleotide variant not provided [RCV001709146] Chr15:61889999 [GRCh38]
Chr15:62182198 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9105+121A>T single nucleotide variant not provided [RCV001709253] Chr15:61907143 [GRCh38]
Chr15:62199342 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8188C>T (p.Arg2730Cys) single nucleotide variant not provided [RCV000960799] Chr15:61915890 [GRCh38]
Chr15:62208089 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5454-174T>C single nucleotide variant not provided [RCV001669500] Chr15:61940968 [GRCh38]
Chr15:62233167 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1915-245A>G single nucleotide variant not provided [RCV001641256] Chr15:61982818 [GRCh38]
Chr15:62275017 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8808A>T (p.Arg2936=) single nucleotide variant not provided [RCV003312305] Chr15:61910213 [GRCh38]
Chr15:62202412 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6516+59T>C single nucleotide variant not provided [RCV001611773] Chr15:61927032 [GRCh38]
Chr15:62219231 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1578+101A>G single nucleotide variant not provided [RCV001643381] Chr15:61990899 [GRCh38]
Chr15:62283098 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2758-113A>G single nucleotide variant not provided [RCV001612027] Chr15:61969565 [GRCh38]
Chr15:62261764 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8423A>G (p.Lys2808Arg) single nucleotide variant not provided [RCV000947634] Chr15:61915655 [GRCh38]
Chr15:62207854 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3584A>C (p.Lys1195Thr) single nucleotide variant VPS13C-related disorder [RCV003978194]|not provided [RCV000949381] Chr15:61962390 [GRCh38]
Chr15:62254589 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9492T>C (p.Phe3164=) single nucleotide variant not provided [RCV000925178] Chr15:61882728 [GRCh38]
Chr15:62174927 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10009T>C (p.Leu3337=) single nucleotide variant not provided [RCV000921644] Chr15:61878740 [GRCh38]
Chr15:62170939 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9408C>T (p.Ile3136=) single nucleotide variant not provided [RCV000967361] Chr15:61884203 [GRCh38]
Chr15:62176402 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4760-3dup duplication not provided [RCV000967362] Chr15:61947311..61947312 [GRCh38]
Chr15:62239510..62239511 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.11084G>A (p.Gly3695Asp) single nucleotide variant not provided [RCV000885241] Chr15:61854947 [GRCh38]
Chr15:62147146 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8442T>C (p.Asn2814=) single nucleotide variant not provided [RCV000969295] Chr15:61915636 [GRCh38]
Chr15:62207835 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4339A>C (p.Arg1447=) single nucleotide variant not provided [RCV000881843] Chr15:61951941 [GRCh38]
Chr15:62244140 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1598C>A (p.Thr533Asn) single nucleotide variant not provided [RCV000881844] Chr15:61984980 [GRCh38]
Chr15:62277179 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4166-8C>T single nucleotide variant not provided [RCV000905737] Chr15:61954562 [GRCh38]
Chr15:62246761 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8711C>T (p.Ser2904Leu) single nucleotide variant not provided [RCV000948959] Chr15:61911844 [GRCh38]
Chr15:62204043 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4453A>G (p.Thr1485Ala) single nucleotide variant not provided [RCV000968305] Chr15:61951827 [GRCh38]
Chr15:62244026 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4565C>G (p.Thr1522Ser) single nucleotide variant not provided [RCV000904196] Chr15:61950389 [GRCh38]
Chr15:62242588 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7689T>C (p.Asn2563=) single nucleotide variant not provided [RCV000922255] Chr15:61918207 [GRCh38]
Chr15:62210406 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4299+7A>G single nucleotide variant not provided [RCV000924349] Chr15:61954414 [GRCh38]
Chr15:62246613 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9165G>A (p.Leu3055=) single nucleotide variant VPS13C-related disorder [RCV003928467]|not provided [RCV000969659] Chr15:61890341 [GRCh38]
Chr15:62182540 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5148+10T>A single nucleotide variant not provided [RCV000971408] Chr15:61945705 [GRCh38]
Chr15:62237904 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3164A>C (p.Glu1055Ala) single nucleotide variant VPS13C-related disorder [RCV004751795]|not provided [RCV000900135] Chr15:61964749 [GRCh38]
Chr15:62256948 [GRCh37]
Chr15:15q22.2		 likely benign|uncertain significance
NM_020821.3(VPS13C):c.7824T>C (p.Tyr2608=) single nucleotide variant not provided [RCV000926323] Chr15:61917572 [GRCh38]
Chr15:62209771 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1132A>G (p.Ile378Val) single nucleotide variant VPS13C-related disorder [RCV003970530]|not provided [RCV000925451] Chr15:62007466 [GRCh38]
Chr15:62299665 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10847G>A (p.Gly3616Asp) single nucleotide variant not provided [RCV000905427] Chr15:61868675 [GRCh38]
Chr15:62160874 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7760+8C>A single nucleotide variant not provided [RCV000905428] Chr15:61918128 [GRCh38]
Chr15:62210327 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10003-4T>C single nucleotide variant not provided [RCV000926401] Chr15:61878750 [GRCh38]
Chr15:62170949 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6471C>T (p.Leu2157=) single nucleotide variant not provided [RCV000942481] Chr15:61927136 [GRCh38]
Chr15:62219335 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10164A>G (p.Arg3388=) single nucleotide variant VPS13C-related disorder [RCV003906020]|not provided [RCV000971631] Chr15:61877033 [GRCh38]
Chr15:62169232 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.7139A>G (p.His2380Arg) single nucleotide variant not provided [RCV000971632] Chr15:61920571 [GRCh38]
Chr15:62212770 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.2400A>C (p.Arg800Ser) single nucleotide variant not provided [RCV000906865] Chr15:61977090 [GRCh38]
Chr15:62269289 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6258T>G (p.Thr2086=) single nucleotide variant not provided [RCV000922684] Chr15:61929529 [GRCh38]
Chr15:62221728 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8574C>T (p.Ser2858=) single nucleotide variant not provided [RCV000995365] Chr15:61911981 [GRCh38]
Chr15:62204180 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8326A>T (p.Asn2776Tyr) single nucleotide variant not provided [RCV000995366] Chr15:61915752 [GRCh38]
Chr15:62207951 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7212+7C>A single nucleotide variant not provided [RCV000995367] Chr15:61920491 [GRCh38]
Chr15:62212690 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6880C>T (p.Arg2294Ter) single nucleotide variant not provided [RCV000995368] Chr15:61922492 [GRCh38]
Chr15:62214691 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.1798A>C (p.Ile600Leu) single nucleotide variant not provided [RCV000995369] Chr15:61983936 [GRCh38]
Chr15:62276135 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.864A>G (p.Ile288Met) single nucleotide variant not provided [RCV000995370] Chr15:62012126 [GRCh38]
Chr15:62304325 [GRCh37]
Chr15:15q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020821.3(VPS13C):c.7698A>G (p.Leu2566=) single nucleotide variant not provided [RCV000922254] Chr15:61918198 [GRCh38]
Chr15:62210397 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7560C>G (p.Ala2520=) single nucleotide variant not provided [RCV000899972] Chr15:61919367 [GRCh38]
Chr15:62211566 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4746C>T (p.Ile1582=) single nucleotide variant not provided [RCV000973531] Chr15:61949456 [GRCh38]
Chr15:62241655 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6469C>T (p.Leu2157Phe) single nucleotide variant VPS13C-related disorder [RCV003978203]|not provided [RCV000949991] Chr15:61927138 [GRCh38]
Chr15:62219337 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2856C>T (p.Asp952=) single nucleotide variant not provided [RCV000919407]|not specified [RCV003489967] Chr15:61969354 [GRCh38]
Chr15:62261553 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.925C>G (p.Pro309Ala) single nucleotide variant not provided [RCV000917748] Chr15:62010558 [GRCh38]
Chr15:62302757 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5410A>G (p.Ile1804Val) single nucleotide variant not provided [RCV000901424] Chr15:61941806 [GRCh38]
Chr15:62234005 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2297C>A (p.Thr766Asn) single nucleotide variant VPS13C-related disorder [RCV003916081]|not provided [RCV000962511] Chr15:61977193 [GRCh38]
Chr15:62269392 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10554C>T (p.Ala3518=) single nucleotide variant VPS13C-related disorder [RCV003958381]|not provided [RCV000916245] Chr15:61873270 [GRCh38]
Chr15:62165469 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.1625C>T (p.Thr542Met) single nucleotide variant VPS13C-related disorder [RCV003905850]|not provided [RCV000962512] Chr15:61984953 [GRCh38]
Chr15:62277152 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10225-6T>C single nucleotide variant not provided [RCV000898487] Chr15:61875851 [GRCh38]
Chr15:62168050 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.54T>C (p.Tyr18=) single nucleotide variant not provided [RCV000920954] Chr15:62060321 [GRCh38]
Chr15:62352520 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2595A>G (p.Leu865=) single nucleotide variant not provided [RCV000893472] Chr15:61973476 [GRCh38]
Chr15:62265675 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1368G>A (p.Gly456=) single nucleotide variant VPS13C-related disorder [RCV003950858]|not provided [RCV000918553] Chr15:61991788 [GRCh38]
Chr15:62283987 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1929A>C (p.Ala643=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002488048]|not provided [RCV000962993] Chr15:61982559 [GRCh38]
Chr15:62274758 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.4166-8C>A single nucleotide variant not provided [RCV000953562] Chr15:61954562 [GRCh38]
Chr15:62246761 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.9171G>A (p.Gly3057=) single nucleotide variant not provided [RCV000921275] Chr15:61890335 [GRCh38]
Chr15:62182534 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8238A>G (p.Thr2746=) single nucleotide variant not provided [RCV000880503] Chr15:61915840 [GRCh38]
Chr15:62208039 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4710C>T (p.Ser1570=) single nucleotide variant not provided [RCV000880504] Chr15:61949492 [GRCh38]
Chr15:62241691 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.426T>C (p.Phe142=) single nucleotide variant not provided [RCV000971228] Chr15:62028380 [GRCh38]
Chr15:62320579 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2797A>G (p.Thr933Ala) single nucleotide variant not provided [RCV000954152] Chr15:61969413 [GRCh38]
Chr15:62261612 [GRCh37]
Chr15:15q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020821.3(VPS13C):c.10413A>G (p.Val3471=) single nucleotide variant VPS13C-related disorder [RCV003950591]|not provided [RCV000902063] Chr15:61874877 [GRCh38]
Chr15:62167076 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8353C>T (p.Arg2785Cys) single nucleotide variant not provided [RCV000900894] Chr15:61915725 [GRCh38]
Chr15:62207924 [GRCh37]
Chr15:15q22.2		 benign
GRCh37/hg19 15q22.2(chr15:62264383-62401731)x3 copy number gain not provided [RCV000846208] Chr15:62264383..62401731 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1988del (p.Thr663fs) deletion Primary degenerative dementia of the Alzheimer type, presenile onset [RCV001090105] Chr15:61982500 [GRCh38]
Chr15:62274699 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8055+7C>G single nucleotide variant not provided [RCV000981389] Chr15:61917334 [GRCh38]
Chr15:62209533 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2948C>G (p.Ser983Cys) single nucleotide variant not provided [RCV001090836] Chr15:61967411 [GRCh38]
Chr15:62259610 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4790T>C (p.Phe1597Ser) single nucleotide variant not provided [RCV002001667] Chr15:61947279 [GRCh38]
Chr15:62239478 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5653A>C (p.Asn1885His) single nucleotide variant not specified [RCV001199930] Chr15:61936699 [GRCh38]
Chr15:62228898 [GRCh37]
Chr15:15q22.2		 uncertain significance
GRCh37/hg19 15q22.2(chr15:62218567-62549882)x4 copy number gain not provided [RCV000845721] Chr15:62218567..62549882 [GRCh37]
Chr15:15q22.2		 uncertain significance
GRCh37/hg19 15q22.2(chr15:62198781-62387962)x1 copy number loss not provided [RCV000847434] Chr15:62198781..62387962 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1102A>G (p.Thr368Ala) single nucleotide variant not provided [RCV001863140]|not specified [RCV001199846] Chr15:62008671 [GRCh38]
Chr15:62300870 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6973C>T (p.Gln2325Ter) single nucleotide variant not provided [RCV003104611] Chr15:61922399 [GRCh38]
Chr15:62214598 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9903A>G (p.Gln3301=) single nucleotide variant not provided [RCV001685917] Chr15:61880708 [GRCh38]
Chr15:62172907 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4483A>G (p.Ile1495Val) single nucleotide variant not provided [RCV001690412] Chr15:61950998 [GRCh38]
Chr15:62243197 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10953-195_10953-194insG insertion not provided [RCV001713210] Chr15:61856603..61856604 [GRCh38]
Chr15:62148802..62148803 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4166-111C>T single nucleotide variant not provided [RCV001695465] Chr15:61954665 [GRCh38]
Chr15:62246864 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4981-150C>T single nucleotide variant not provided [RCV001725446] Chr15:61946032 [GRCh38]
Chr15:62238231 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8844+86G>A single nucleotide variant not provided [RCV001661002] Chr15:61910091 [GRCh38]
Chr15:62202290 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1012-134C>T single nucleotide variant not provided [RCV001638400] Chr15:62008895 [GRCh38]
Chr15:62301094 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3908+147GT[19] microsatellite not provided [RCV001654182] Chr15:61961395..61961404 [GRCh38]
Chr15:62253594..62253603 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6038+16G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002243355]|not provided [RCV001648588] Chr15:61931074 [GRCh38]
Chr15:62223273 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9889-56C>A single nucleotide variant not provided [RCV001709110] Chr15:61880778 [GRCh38]
Chr15:62172977 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8446-217_8446-212del deletion not provided [RCV001687251] Chr15:61913627..61913632 [GRCh38]
Chr15:62205826..62205831 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7638+38C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002243382]|not provided [RCV001669446] Chr15:61919251 [GRCh38]
Chr15:62211450 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4537-150dup duplication not provided [RCV001680160] Chr15:61950555..61950556 [GRCh38]
Chr15:62242754..62242755 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4362C>T (p.Val1454=) single nucleotide variant VPS13C-related disorder [RCV003921287]|not provided [RCV001639773] Chr15:61951918 [GRCh38]
Chr15:62244117 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9484-84A>G single nucleotide variant not provided [RCV001620181] Chr15:61882820 [GRCh38]
Chr15:62175019 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4980+158G>A single nucleotide variant not provided [RCV001614060] Chr15:61946149 [GRCh38]
Chr15:62238348 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.*58G>A single nucleotide variant not provided [RCV001639822] Chr15:61854399 [GRCh38]
Chr15:62146598 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9888+57C>T single nucleotide variant not provided [RCV001639862] Chr15:61880786 [GRCh38]
Chr15:62172985 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4877-175A>T single nucleotide variant not provided [RCV001710084] Chr15:61946585 [GRCh38]
Chr15:62238784 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5755+100C>G single nucleotide variant not provided [RCV001669767] Chr15:61936497 [GRCh38]
Chr15:62228696 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7445G>A (p.Arg2482His) single nucleotide variant not provided [RCV001680408] Chr15:61920099 [GRCh38]
Chr15:62212298 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4300-102G>C single nucleotide variant not provided [RCV001676642] Chr15:61952082 [GRCh38]
Chr15:62244281 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6286+108T>G single nucleotide variant not provided [RCV001649670] Chr15:61929393 [GRCh38]
Chr15:62221592 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.625-103T>G single nucleotide variant not provided [RCV001620413] Chr15:62020641 [GRCh38]
Chr15:62312840 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2291-139A>G single nucleotide variant not provided [RCV001616938] Chr15:61977338 [GRCh38]
Chr15:62269537 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10338+34C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002243440]|not provided [RCV001716480] Chr15:61875698 [GRCh38]
Chr15:62167897 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.826-93GT[21] microsatellite not provided [RCV001594634] Chr15:62012221..62012222 [GRCh38]
Chr15:62304420..62304421 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2758-90G>A single nucleotide variant not provided [RCV001689426] Chr15:61969542 [GRCh38]
Chr15:62261741 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5148+21T>G single nucleotide variant not provided [RCV001673444] Chr15:61945694 [GRCh38]
Chr15:62237893 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.458G>A (p.Arg153His) single nucleotide variant VPS13C-related disorder [RCV003975859]|not provided [RCV001670764] Chr15:62023836 [GRCh38]
Chr15:62316035 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3908+147GT[23] microsatellite not provided [RCV001672385] Chr15:61961395..61961396 [GRCh38]
Chr15:62253594..62253595 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.283+29A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002243378]|not provided [RCV001653451] Chr15:62034928 [GRCh38]
Chr15:62327127 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4876+88T>A single nucleotide variant not provided [RCV001665905] Chr15:61947105 [GRCh38]
Chr15:62239304 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.515-112C>T single nucleotide variant not provided [RCV001695118] Chr15:62023632 [GRCh38]
Chr15:62315831 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9484-199C>T single nucleotide variant not provided [RCV001677407] Chr15:61882935 [GRCh38]
Chr15:62175134 [GRCh37]
Chr15:15q22.2		 benign
NC_000015.9:g.(?_62146656)_(64747263_?)del deletion not provided [RCV003107781] Chr15:62146656..64747263 [GRCh37]
Chr15:15q22.2-22.31		 pathogenic
NM_020821.3(VPS13C):c.10863+181del deletion not provided [RCV001652627] Chr15:61868478 [GRCh38]
Chr15:62160677 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5010T>C (p.Phe1670=) single nucleotide variant not provided [RCV000907746] Chr15:61945853 [GRCh38]
Chr15:62238052 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.511A>G (p.Lys171Glu) single nucleotide variant VPS13C-related disorder [RCV003925982]|not provided [RCV000953563] Chr15:62023783 [GRCh38]
Chr15:62315982 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7296T>C (p.Val2432=) single nucleotide variant not provided [RCV000907200] Chr15:61920248 [GRCh38]
Chr15:62212447 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1866C>A (p.Asp622Glu) single nucleotide variant not provided [RCV000885403] Chr15:61983868 [GRCh38]
Chr15:62276067 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.11176A>G (p.Ile3726Val) single nucleotide variant not provided [RCV000974582] Chr15:61854543 [GRCh38]
Chr15:62146742 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.4249A>C (p.Ile1417Leu) single nucleotide variant not provided [RCV000886016] Chr15:61954471 [GRCh38]
Chr15:62246670 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.11241C>G (p.Leu3747=) single nucleotide variant not provided [RCV000980258] Chr15:61854478 [GRCh38]
Chr15:62146677 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1484-2A>G single nucleotide variant not provided [RCV000900675] Chr15:61991096 [GRCh38]
Chr15:62283295 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.8845-5A>C single nucleotide variant not provided [RCV000928537] Chr15:61909130 [GRCh38]
Chr15:62201329 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7276G>A (p.Val2426Ile) single nucleotide variant VPS13C-related disorder [RCV003975510]|not provided [RCV000879893] Chr15:61920268 [GRCh38]
Chr15:62212467 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6128C>G (p.Ala2043Gly) single nucleotide variant VPS13C-related disorder [RCV003958267]|not provided [RCV000908141] Chr15:61929659 [GRCh38]
Chr15:62221858 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8366T>C (p.Ile2789Thr) single nucleotide variant VPS13C-related disorder [RCV003925976]|not provided [RCV000953338] Chr15:61915712 [GRCh38]
Chr15:62207911 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.2643T>C (p.Ala881=) single nucleotide variant not provided [RCV000906710] Chr15:61972739 [GRCh38]
Chr15:62264938 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.258A>G (p.Leu86=) single nucleotide variant not provided [RCV000930060] Chr15:62034982 [GRCh38]
Chr15:62327181 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7639-9G>T single nucleotide variant not provided [RCV000954151] Chr15:61918266 [GRCh38]
Chr15:62210465 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8996T>C (p.Met2999Thr) single nucleotide variant not provided [RCV001090835] Chr15:61907373 [GRCh38]
Chr15:62199572 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.684+7T>C single nucleotide variant not provided [RCV000957686] Chr15:62020472 [GRCh38]
Chr15:62312671 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1362G>A (p.Arg454=) single nucleotide variant VPS13C-related disorder [RCV003933192]|not provided [RCV000935779] Chr15:61991794 [GRCh38]
Chr15:62283993 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.284-10A>G single nucleotide variant not provided [RCV000935780] Chr15:62033552 [GRCh38]
Chr15:62325751 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5766T>C (p.Asp1922=) single nucleotide variant not provided [RCV000933711] Chr15:61934321 [GRCh38]
Chr15:62226520 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.515A>G (p.Asp172Gly) single nucleotide variant not provided [RCV000913527] Chr15:62023520 [GRCh38]
Chr15:62315719 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8556T>C (p.Gly2852=) single nucleotide variant not provided [RCV000934146] Chr15:61911999 [GRCh38]
Chr15:62204198 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9526C>G (p.Arg3176Gly) single nucleotide variant VPS13C-related disorder [RCV003957943]|not provided [RCV000890549] Chr15:61882694 [GRCh38]
Chr15:62174893 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7317T>C (p.Asn2439=) single nucleotide variant not provided [RCV000935277] Chr15:61920227 [GRCh38]
Chr15:62212426 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3234T>C (p.Asp1078=) single nucleotide variant VPS13C-related disorder [RCV003935878]|not provided [RCV000957417] Chr15:61963932 [GRCh38]
Chr15:62256131 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.8371G>A (p.Val2791Met) single nucleotide variant not provided [RCV004814717] Chr15:61915707 [GRCh38]
Chr15:62207906 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2996A>G (p.Asp999Gly) single nucleotide variant not provided [RCV004814718] Chr15:61966138 [GRCh38]
Chr15:62258337 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10740C>G (p.Gly3580=) single nucleotide variant not provided [RCV000890187] Chr15:61869508 [GRCh38]
Chr15:62161707 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1119-142A>G single nucleotide variant not provided [RCV001656678] Chr15:62007621 [GRCh38]
Chr15:62299820 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2290+60C>T single nucleotide variant not provided [RCV001688638] Chr15:61978566 [GRCh38]
Chr15:62270765 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6286+21A>G single nucleotide variant not provided [RCV001598163] Chr15:61929480 [GRCh38]
Chr15:62221679 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8445+213A>G single nucleotide variant not provided [RCV001688873] Chr15:61915420 [GRCh38]
Chr15:62207619 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10414+58C>T single nucleotide variant not provided [RCV001655976] Chr15:61874818 [GRCh38]
Chr15:62167017 [GRCh37]
Chr15:15q22.2		 benign
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3 copy number gain not provided [RCV002472512] Chr15:48589845..63543438 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
NM_020821.3(VPS13C):c.9677C>T (p.Ala3226Val) single nucleotide variant not provided [RCV001556135] Chr15:61881776 [GRCh38]
Chr15:62173975 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10049A>G (p.Lys3350Arg) single nucleotide variant not provided [RCV003480130] Chr15:61878700 [GRCh38]
Chr15:62170899 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7199A>G (p.Asn2400Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002471596] Chr15:61920511 [GRCh38]
Chr15:62212710 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.100+100T>C single nucleotide variant not provided [RCV001621324] Chr15:62060175 [GRCh38]
Chr15:62352374 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1354-64G>A single nucleotide variant not provided [RCV001654610] Chr15:61991866 [GRCh38]
Chr15:62284065 [GRCh37]
Chr15:15q22.2		 benign
NC_000015.10:g.62060644C>T single nucleotide variant not provided [RCV001676096] Chr15:62060644 [GRCh38]
Chr15:62352843 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4299+66A>G single nucleotide variant not provided [RCV001619273] Chr15:61954355 [GRCh38]
Chr15:62246554 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10225-217C>T single nucleotide variant not provided [RCV001677462] Chr15:61876062 [GRCh38]
Chr15:62168261 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.188-141T>C single nucleotide variant not provided [RCV001661079] Chr15:62035193 [GRCh38]
Chr15:62327392 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1291-131A>C single nucleotide variant not provided [RCV001685817] Chr15:62000757 [GRCh38]
Chr15:62292956 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7639-48C>T single nucleotide variant not provided [RCV001715564] Chr15:61918305 [GRCh38]
Chr15:62210504 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.826-93GT[15] microsatellite not provided [RCV001686818] Chr15:62012222..62012227 [GRCh38]
Chr15:62304421..62304426 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.825+148T>C single nucleotide variant not provided [RCV001637772] Chr15:62012891 [GRCh38]
Chr15:62305090 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10953-123del deletion not provided [RCV001635559] Chr15:61856532 [GRCh38]
Chr15:62148731 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7639-119A>G single nucleotide variant not provided [RCV001638217] Chr15:61918376 [GRCh38]
Chr15:62210575 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10863+116A>G single nucleotide variant not provided [RCV001649568] Chr15:61868543 [GRCh38]
Chr15:62160742 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8978+217A>G single nucleotide variant not provided [RCV001687389] Chr15:61908775 [GRCh38]
Chr15:62200974 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4877-249dup duplication not provided [RCV001596155] Chr15:61946648..61946649 [GRCh38]
Chr15:62238847..62238848 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9525T>C (p.Ile3175=) single nucleotide variant not provided [RCV001599024] Chr15:61882695 [GRCh38]
Chr15:62174894 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6286+232C>T single nucleotide variant not provided [RCV001687312] Chr15:61929269 [GRCh38]
Chr15:62221468 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2927C>T (p.Pro976Leu) single nucleotide variant not provided [RCV001171899] Chr15:61967432 [GRCh38]
Chr15:62259631 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.385+122T>A single nucleotide variant not provided [RCV001649654] Chr15:62033319 [GRCh38]
Chr15:62325518 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6975+93A>G single nucleotide variant not provided [RCV001615025] Chr15:61922304 [GRCh38]
Chr15:62214503 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6039-239A>G single nucleotide variant not provided [RCV001694009] Chr15:61929987 [GRCh38]
Chr15:62222186 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.826-93GT[16] microsatellite not provided [RCV001680342] Chr15:62012222..62012225 [GRCh38]
Chr15:62304421..62304424 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10863+214del deletion not provided [RCV001695355] Chr15:61868445 [GRCh38]
Chr15:62160644 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3435+56A>G single nucleotide variant not provided [RCV001709467] Chr15:61962693 [GRCh38]
Chr15:62254892 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3332-121T>C single nucleotide variant not provided [RCV001648014] Chr15:61962973 [GRCh38]
Chr15:62255172 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5756-158A>G single nucleotide variant not provided [RCV001693406] Chr15:61934489 [GRCh38]
Chr15:62226688 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.144+132A>G single nucleotide variant not provided [RCV001667761] Chr15:62044080 [GRCh38]
Chr15:62336279 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3908+35_3908+39del microsatellite not provided [RCV001710972] Chr15:61961550..61961554 [GRCh38]
Chr15:62253749..62253753 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8715+155A>T single nucleotide variant not provided [RCV001711013] Chr15:61911685 [GRCh38]
Chr15:62203884 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5755+26T>G single nucleotide variant not provided [RCV001713361] Chr15:61936571 [GRCh38]
Chr15:62228770 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.826-93GT[20] microsatellite not provided [RCV001695580] Chr15:62012221..62012222 [GRCh38]
Chr15:62304420..62304421 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.685-72A>G single nucleotide variant not provided [RCV001616185] Chr15:62014064 [GRCh38]
Chr15:62306263 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4056+196A>G single nucleotide variant not provided [RCV001648143] Chr15:61959252 [GRCh38]
Chr15:62251451 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.624+136C>T single nucleotide variant not provided [RCV001710541] Chr15:62023275 [GRCh38]
Chr15:62315474 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2912-126G>A single nucleotide variant not provided [RCV001672252] Chr15:61967573 [GRCh38]
Chr15:62259772 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3908+147GT[22] microsatellite not provided [RCV001651529] Chr15:61961395..61961398 [GRCh38]
Chr15:62253594..62253597 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1915-168C>G single nucleotide variant not provided [RCV001713568] Chr15:61982741 [GRCh38]
Chr15:62274940 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3908+147GT[14] microsatellite not provided [RCV001693639] Chr15:61961395..61961414 [GRCh38]
Chr15:62253594..62253613 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4456+194G>A single nucleotide variant not provided [RCV001693680] Chr15:61951630 [GRCh38]
Chr15:62243829 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2617+146C>T single nucleotide variant not provided [RCV001685660] Chr15:61973308 [GRCh38]
Chr15:62265507 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9105+209dup duplication not provided [RCV001680458] Chr15:61907049..61907050 [GRCh38]
Chr15:62199248..62199249 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9484-68G>C single nucleotide variant not provided [RCV001679304] Chr15:61882804 [GRCh38]
Chr15:62175003 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10224+100T>C single nucleotide variant not provided [RCV001645334] Chr15:61876873 [GRCh38]
Chr15:62169072 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.826-93GT[23] microsatellite not provided [RCV001679590] Chr15:62012221..62012222 [GRCh38]
Chr15:62304420..62304421 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5148+204G>A single nucleotide variant not provided [RCV001714135] Chr15:61945511 [GRCh38]
Chr15:62237710 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5863A>C (p.Asn1955His) single nucleotide variant VPS13C-related disorder [RCV003980785]|not provided [RCV001609381] Chr15:61934224 [GRCh38]
Chr15:62226423 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.514+29G>A single nucleotide variant not provided [RCV001679626] Chr15:62023751 [GRCh38]
Chr15:62315950 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3908+147GT[18] microsatellite not provided [RCV001696462] Chr15:61961395..61961406 [GRCh38]
Chr15:62253594..62253605 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8716-134A>G single nucleotide variant not provided [RCV001649773] Chr15:61910439 [GRCh38]
Chr15:62202638 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) single nucleotide variant Frontotemporal dementia [RCV001090104]|not provided [RCV002223989]|not specified [RCV003490062] Chr15:61856408 [GRCh38]
Chr15:62148607 [GRCh37]
Chr15:15q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_020821.3(VPS13C):c.1111C>T (p.Arg371Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV001262677]|Young-onset Parkinson disease [RCV004017812] Chr15:62008662 [GRCh38]
Chr15:62300861 [GRCh37]
Chr15:15q22.2		 pathogenic|likely pathogenic
NM_020821.3(VPS13C):c.10953-173T>C single nucleotide variant not provided [RCV001536537] Chr15:61856582 [GRCh38]
Chr15:62148781 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1409G>A (p.Arg470His) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV001330972]|not provided [RCV002546431] Chr15:61991747 [GRCh38]
Chr15:62283946 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1119G>A (p.Trp373Ter) single nucleotide variant Young-onset Parkinson disease [RCV004018133] Chr15:62007479 [GRCh38]
Chr15:62299678 [GRCh37]
Chr15:15q22.2		 pathogenic|likely pathogenic
NM_020821.3(VPS13C):c.4339del (p.Arg1447fs) deletion not provided [RCV001311863] Chr15:61951941 [GRCh38]
Chr15:62244140 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.514+2T>C single nucleotide variant Parkinson disease 23, autosomal recessive early-onset [RCV001335083] Chr15:62023778 [GRCh38]
Chr15:62315977 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.4536+50AT[4] microsatellite not provided [RCV001538513] Chr15:61950891..61950892 [GRCh38]
Chr15:62243090..62243091 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.624+5_624+8del microsatellite Parkinson disease 23, autosomal recessive early-onset [RCV001335084] Chr15:62023403..62023406 [GRCh38]
Chr15:62315602..62315605 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.459dup (p.Lys154Ter) duplication Parkinson disease 23, autosomal recessive early-onset [RCV001329806] Chr15:62023834..62023835 [GRCh38]
Chr15:62316033..62316034 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.3003_3004del (p.Asn1001fs) deletion not provided [RCV001311864] Chr15:61966130..61966131 [GRCh38]
Chr15:62258329..62258330 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.2138T>C (p.Leu713Pro) single nucleotide variant not provided [RCV001311865] Chr15:61981370 [GRCh38]
Chr15:62273569 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1483+1G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV001332171] Chr15:61991672 [GRCh38]
Chr15:62283871 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.7382dup (p.Asn2461fs) duplication not provided [RCV002745224] Chr15:61920161..61920162 [GRCh38]
Chr15:62212360..62212361 [GRCh37]
Chr15:15q22.2		 pathogenic|likely pathogenic
NM_020821.3(VPS13C):c.5601+50G>A single nucleotide variant not provided [RCV001541479] Chr15:61940597 [GRCh38]
Chr15:62232796 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8988A>T (p.Pro2996=) single nucleotide variant VPS13C-related disorder [RCV003976062]|not provided [RCV001709167] Chr15:61907381 [GRCh38]
Chr15:62199580 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9105+52G>A single nucleotide variant not provided [RCV001715096] Chr15:61907212 [GRCh38]
Chr15:62199411 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4760-189G>A single nucleotide variant not provided [RCV001675369] Chr15:61947498 [GRCh38]
Chr15:62239697 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7128A>G (p.Gln2376=) single nucleotide variant VPS13C-related disorder [RCV003976000]|not provided [RCV001695200] Chr15:61920582 [GRCh38]
Chr15:62212781 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2409-49G>A single nucleotide variant not provided [RCV001686231] Chr15:61974466 [GRCh38]
Chr15:62266665 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10002+199C>T single nucleotide variant not provided [RCV001650653] Chr15:61880410 [GRCh38]
Chr15:62172609 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7638+98A>G single nucleotide variant not provided [RCV001693316] Chr15:61919191 [GRCh38]
Chr15:62211390 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.884-29A>G single nucleotide variant not provided [RCV001654934] Chr15:62010628 [GRCh38]
Chr15:62302827 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3905A>G (p.Tyr1302Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002243365]|not provided [RCV001649514] Chr15:61961592 [GRCh38]
Chr15:62253791 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.826-93GT[19] microsatellite not provided [RCV001687162] Chr15:62012221..62012222 [GRCh38]
Chr15:62304420..62304421 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3908+147GT[25] microsatellite not provided [RCV001655532] Chr15:61961394..61961395 [GRCh38]
Chr15:62253593..62253594 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1354-100T>C single nucleotide variant not provided [RCV001618954] Chr15:61991902 [GRCh38]
Chr15:62284101 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6286+146G>C single nucleotide variant not provided [RCV001655144] Chr15:61929355 [GRCh38]
Chr15:62221554 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3394A>G (p.Ile1132Val) single nucleotide variant VPS13C-related disorder [RCV003980765]|not provided [RCV001613768] Chr15:61962790 [GRCh38]
Chr15:62254989 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8845-10del deletion Autosomal recessive early-onset Parkinson disease 23 [RCV002243428]|not provided [RCV001695774] Chr15:61909135 [GRCh38]
Chr15:62201334 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.884-88C>G single nucleotide variant not provided [RCV001644044] Chr15:62010687 [GRCh38]
Chr15:62302886 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6964G>A (p.Val2322Met) single nucleotide variant not provided [RCV001686598] Chr15:61922408 [GRCh38]
Chr15:62214607 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7760+61C>A single nucleotide variant not provided [RCV001709953] Chr15:61918075 [GRCh38]
Chr15:62210274 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10748+221T>C single nucleotide variant not provided [RCV001617873] Chr15:61869279 [GRCh38]
Chr15:62161478 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10470A>G (p.Ala3490=) single nucleotide variant not provided [RCV001687038] Chr15:61873354 [GRCh38]
Chr15:62165553 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8738G>A (p.Ser2913Asn) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002243387]|not provided [RCV001674851] Chr15:61910283 [GRCh38]
Chr15:62202482 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4597-158G>A single nucleotide variant not provided [RCV001685314] Chr15:61949763 [GRCh38]
Chr15:62241962 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2409-167T>C single nucleotide variant not provided [RCV001618108] Chr15:61974584 [GRCh38]
Chr15:62266783 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10863+100G>T single nucleotide variant not provided [RCV001616462] Chr15:61868559 [GRCh38]
Chr15:62160758 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4760-44T>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002243328]|not provided [RCV001614274] Chr15:61947353 [GRCh38]
Chr15:62239552 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.884-94T>G single nucleotide variant not provided [RCV001539150] Chr15:62010693 [GRCh38]
Chr15:62302892 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7762_7763delinsAT (p.Cys2588Ile) indel not provided [RCV003108504] Chr15:61917633..61917634 [GRCh38]
Chr15:62209832..62209833 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3052-5T>G single nucleotide variant not provided [RCV001761363] Chr15:61964866 [GRCh38]
Chr15:62257065 [GRCh37]
Chr15:15q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020821.3(VPS13C):c.826-2A>G single nucleotide variant not provided [RCV001758253] Chr15:62012166 [GRCh38]
Chr15:62304365 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8806C>T (p.Arg2936Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV001784020] Chr15:61910215 [GRCh38]
Chr15:62202414 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.10786_10792del (p.Pro3596fs) deletion Autosomal recessive early-onset Parkinson disease 23 [RCV001784021] Chr15:61868730..61868736 [GRCh38]
Chr15:62160929..62160935 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.9541C>T (p.Arg3181Ter) single nucleotide variant not provided [RCV002034577] Chr15:61882679 [GRCh38]
Chr15:62174878 [GRCh37]
Chr15:15q22.2		 pathogenic|uncertain significance
NM_020821.3(VPS13C):c.10060G>T (p.Glu3354Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV001785127] Chr15:61878689 [GRCh38]
Chr15:62170888 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.5842_5843insATGA (p.Ile1948fs) insertion Autosomal recessive early-onset Parkinson disease 23 [RCV001785129] Chr15:61934244..61934245 [GRCh38]
Chr15:62226443..62226444 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.7519_7523del (p.Arg2507fs) deletion Autosomal recessive early-onset Parkinson disease 23 [RCV001785128] Chr15:61919404..61919408 [GRCh38]
Chr15:62211603..62211607 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.719A>G (p.Asn240Ser) single nucleotide variant not provided [RCV001763681] Chr15:62013958 [GRCh38]
Chr15:62306157 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6610-1G>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV001784022] Chr15:61922763 [GRCh38]
Chr15:62214962 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.318C>T (p.Ser106=) single nucleotide variant not provided [RCV004809064] Chr15:62033508 [GRCh38]
Chr15:62325707 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7556A>G (p.Asn2519Ser) single nucleotide variant not provided [RCV001949524] Chr15:61919371 [GRCh38]
Chr15:62211570 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.871A>G (p.Asn291Asp) single nucleotide variant not provided [RCV001983226] Chr15:62012119 [GRCh38]
Chr15:62304318 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5142T>A (p.Ser1714=) single nucleotide variant not provided [RCV001949598] Chr15:61945721 [GRCh38]
Chr15:62237920 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10955G>A (p.Arg3652Gln) single nucleotide variant Inborn genetic diseases [RCV002562217]|VPS13C-related disorder [RCV003958433]|not provided [RCV001950397] Chr15:61856407 [GRCh38]
Chr15:62148606 [GRCh37]
Chr15:15q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020821.3(VPS13C):c.11065A>G (p.Ile3689Val) single nucleotide variant not provided [RCV001874873] Chr15:61856297 [GRCh38]
Chr15:62148496 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9527G>A (p.Arg3176His) single nucleotide variant not provided [RCV001950610] Chr15:61882693 [GRCh38]
Chr15:62174892 [GRCh37]
Chr15:15q22.2		 uncertain significance
NC_000015.9:g.(?_62320751)_(62325717_?)del deletion not provided [RCV001950589] Chr15:62320751..62325717 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10G>C (p.Glu4Gln) single nucleotide variant not provided [RCV001929267] Chr15:62060365 [GRCh38]
Chr15:62352564 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5726A>T (p.Asp1909Val) single nucleotide variant not provided [RCV001914920] Chr15:61936626 [GRCh38]
Chr15:62228825 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10030G>A (p.Gly3344Arg) single nucleotide variant not provided [RCV001949090] Chr15:61878719 [GRCh38]
Chr15:62170918 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9611T>C (p.Leu3204Ser) single nucleotide variant not provided [RCV001927738] Chr15:61882609 [GRCh38]
Chr15:62174808 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4614A>C (p.Leu1538Phe) single nucleotide variant not provided [RCV001949737] Chr15:61949588 [GRCh38]
Chr15:62241787 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9646G>T (p.Ala3216Ser) single nucleotide variant not provided [RCV001864240] Chr15:61881807 [GRCh38]
Chr15:62174006 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6247C>T (p.Pro2083Ser) single nucleotide variant not provided [RCV001988237] Chr15:61929540 [GRCh38]
Chr15:62221739 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9661G>T (p.Val3221Leu) single nucleotide variant VPS13C-related disorder [RCV003948852]|not provided [RCV001968863] Chr15:61881792 [GRCh38]
Chr15:62173991 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6610A>T (p.Ile2204Phe) single nucleotide variant not provided [RCV002041858] Chr15:61922762 [GRCh38]
Chr15:62214961 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7914A>G (p.Ile2638Met) single nucleotide variant VPS13C-related disorder [RCV003892935]|not provided [RCV001911546] Chr15:61917482 [GRCh38]
Chr15:62209681 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5020C>A (p.Leu1674Met) single nucleotide variant not provided [RCV001985080] Chr15:61945843 [GRCh38]
Chr15:62238042 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3166G>A (p.Val1056Ile) single nucleotide variant Inborn genetic diseases [RCV002564412]|not provided [RCV001965640] Chr15:61964747 [GRCh38]
Chr15:62256946 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1015T>G (p.Leu339Val) single nucleotide variant not provided [RCV001968012] Chr15:62008758 [GRCh38]
Chr15:62300957 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2029G>T (p.Gly677Ter) single nucleotide variant not provided [RCV002004923] Chr15:61982459 [GRCh38]
Chr15:62274658 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9262del (p.Thr3088fs) deletion not provided [RCV001966580] Chr15:61890244 [GRCh38]
Chr15:62182443 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1933G>A (p.Val645Ile) single nucleotide variant not provided [RCV001871270] Chr15:61982555 [GRCh38]
Chr15:62274754 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8071C>G (p.His2691Asp) single nucleotide variant not provided [RCV001945845] Chr15:61916007 [GRCh38]
Chr15:62208206 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7498G>A (p.Val2500Ile) single nucleotide variant not provided [RCV002003484] Chr15:61919429 [GRCh38]
Chr15:62211628 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3467G>A (p.Arg1156His) single nucleotide variant not provided [RCV002023011] Chr15:61962507 [GRCh38]
Chr15:62254706 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9172C>T (p.Arg3058Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV004820905]|not provided [RCV002007065] Chr15:61890334 [GRCh38]
Chr15:62182533 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7263A>T (p.Arg2421Ser) single nucleotide variant not provided [RCV001863367] Chr15:61920281 [GRCh38]
Chr15:62212480 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.950C>T (p.Thr317Met) single nucleotide variant not provided [RCV002044319] Chr15:62010533 [GRCh38]
Chr15:62302732 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2621C>T (p.Ser874Phe) single nucleotide variant not provided [RCV001928225] Chr15:61972761 [GRCh38]
Chr15:62264960 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4760-6T>G single nucleotide variant not provided [RCV002043677] Chr15:61947315 [GRCh38]
Chr15:62239514 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5383A>G (p.Met1795Val) single nucleotide variant not provided [RCV002002253] Chr15:61941833 [GRCh38]
Chr15:62234032 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1361G>A (p.Arg454Gln) single nucleotide variant not provided [RCV002020841] Chr15:61991795 [GRCh38]
Chr15:62283994 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.922A>T (p.Asn308Tyr) single nucleotide variant not provided [RCV001908538] Chr15:62010561 [GRCh38]
Chr15:62302760 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1720A>G (p.Lys574Glu) single nucleotide variant not provided [RCV001912111] Chr15:61984858 [GRCh38]
Chr15:62277057 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9083T>A (p.Val3028Asp) single nucleotide variant not provided [RCV001963817] Chr15:61907286 [GRCh38]
Chr15:62199485 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8839G>A (p.Asp2947Asn) single nucleotide variant not provided [RCV002044383] Chr15:61910182 [GRCh38]
Chr15:62202381 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6174G>T (p.Met2058Ile) single nucleotide variant not provided [RCV001969731] Chr15:61929613 [GRCh38]
Chr15:62221812 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9691A>G (p.Ile3231Val) single nucleotide variant not provided [RCV002042677] Chr15:61881762 [GRCh38]
Chr15:62173961 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1126T>G (p.Tyr376Asp) single nucleotide variant not provided [RCV002005587] Chr15:62007472 [GRCh38]
Chr15:62299671 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6815T>C (p.Ile2272Thr) single nucleotide variant not provided [RCV001913294] Chr15:61922557 [GRCh38]
Chr15:62214756 [GRCh37]
Chr15:15q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020821.3(VPS13C):c.1947A>G (p.Gln649=) single nucleotide variant not provided [RCV001872124] Chr15:61982541 [GRCh38]
Chr15:62274740 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6995T>A (p.Ile2332Asn) single nucleotide variant not provided [RCV002004589] Chr15:61922014 [GRCh38]
Chr15:62214213 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2167-18A>G single nucleotide variant not provided [RCV002002903] Chr15:61978767 [GRCh38]
Chr15:62270966 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8708C>T (p.Ser2903Phe) single nucleotide variant not provided [RCV001984393] Chr15:61911847 [GRCh38]
Chr15:62204046 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7102G>A (p.Gly2368Arg) single nucleotide variant not provided [RCV001984990] Chr15:61920608 [GRCh38]
Chr15:62212807 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.11143G>T (p.Asp3715Tyr) single nucleotide variant not provided [RCV002020861] Chr15:61854888 [GRCh38]
Chr15:62147087 [GRCh37]
Chr15:15q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020821.3(VPS13C):c.4295A>C (p.Lys1432Thr) single nucleotide variant Inborn genetic diseases [RCV002552842]|not provided [RCV001890337] Chr15:61954425 [GRCh38]
Chr15:62246624 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9106G>A (p.Asp3036Asn) single nucleotide variant not provided [RCV002038485] Chr15:61890400 [GRCh38]
Chr15:62182599 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8531C>T (p.Ala2844Val) single nucleotide variant not provided [RCV001888065] Chr15:61913330 [GRCh38]
Chr15:62205529 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4162A>G (p.Thr1388Ala) single nucleotide variant not provided [RCV002020110] Chr15:61958611 [GRCh38]
Chr15:62250810 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10338+4T>C single nucleotide variant not provided [RCV002001255] Chr15:61875728 [GRCh38]
Chr15:62167927 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6158G>A (p.Ser2053Asn) single nucleotide variant not provided [RCV001997947] Chr15:61929629 [GRCh38]
Chr15:62221828 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9530G>A (p.Ser3177Asn) single nucleotide variant not provided [RCV002014707] Chr15:61882690 [GRCh38]
Chr15:62174889 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3326T>C (p.Ile1109Thr) single nucleotide variant Inborn genetic diseases [RCV002573544]|not provided [RCV001994126] Chr15:61963840 [GRCh38]
Chr15:62256039 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1065G>A (p.Ala355=) single nucleotide variant not provided [RCV001999707] Chr15:62008708 [GRCh38]
Chr15:62300907 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8133G>A (p.Met2711Ile) single nucleotide variant not provided [RCV001944073] Chr15:61915945 [GRCh38]
Chr15:62208144 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3262G>A (p.Ala1088Thr) single nucleotide variant Inborn genetic diseases [RCV002550354]|not provided [RCV001961851] Chr15:61963904 [GRCh38]
Chr15:62256103 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1810A>G (p.Thr604Ala) single nucleotide variant not provided [RCV001875101] Chr15:61983924 [GRCh38]
Chr15:62276123 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8419A>G (p.Lys2807Glu) single nucleotide variant not provided [RCV002000951] Chr15:61915659 [GRCh38]
Chr15:62207858 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.242C>T (p.Ala81Val) single nucleotide variant not provided [RCV001931670] Chr15:62034998 [GRCh38]
Chr15:62327197 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5069C>T (p.Ser1690Phe) single nucleotide variant not provided [RCV002038666] Chr15:61945794 [GRCh38]
Chr15:62237993 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1550G>C (p.Ser517Thr) single nucleotide variant not provided [RCV001888258] Chr15:61991028 [GRCh38]
Chr15:62283227 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7547G>A (p.Arg2516Gln) single nucleotide variant not provided [RCV001897222] Chr15:61919380 [GRCh38]
Chr15:62211579 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6760G>A (p.Val2254Ile) single nucleotide variant not provided [RCV002046158] Chr15:61922612 [GRCh38]
Chr15:62214811 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1502C>G (p.Thr501Ser) single nucleotide variant not provided [RCV001952444] Chr15:61991076 [GRCh38]
Chr15:62283275 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.839A>G (p.Asn280Ser) single nucleotide variant not provided [RCV001897333] Chr15:62012151 [GRCh38]
Chr15:62304350 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6692C>A (p.Thr2231Lys) single nucleotide variant not provided [RCV002026505] Chr15:61922680 [GRCh38]
Chr15:62214879 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4988C>G (p.Ser1663Cys) single nucleotide variant not provided [RCV001961143] Chr15:61945875 [GRCh38]
Chr15:62238074 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.11174C>A (p.Ala3725Asp) single nucleotide variant not provided [RCV002010208] Chr15:61854545 [GRCh38]
Chr15:62146744 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5083A>G (p.Lys1695Glu) single nucleotide variant Inborn genetic diseases [RCV002571376]|not provided [RCV001974001] Chr15:61945780 [GRCh38]
Chr15:62237979 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.11046C>T (p.Val3682=) single nucleotide variant not provided [RCV001954145] Chr15:61856316 [GRCh38]
Chr15:62148515 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2111C>T (p.Thr704Met) single nucleotide variant not provided [RCV001954555] Chr15:61981397 [GRCh38]
Chr15:62273596 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6839T>C (p.Val2280Ala) single nucleotide variant not provided [RCV001879026] Chr15:61922533 [GRCh38]
Chr15:62214732 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7961A>G (p.His2654Arg) single nucleotide variant not provided [RCV002029526] Chr15:61917435 [GRCh38]
Chr15:62209634 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.238G>T (p.Val80Phe) single nucleotide variant not provided [RCV001901871] Chr15:62035002 [GRCh38]
Chr15:62327201 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8899T>G (p.Phe2967Val) single nucleotide variant not provided [RCV001903785] Chr15:61909071 [GRCh38]
Chr15:62201270 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7561A>C (p.Ser2521Arg) single nucleotide variant not provided [RCV001992437] Chr15:61919366 [GRCh38]
Chr15:62211565 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3148A>G (p.Ile1050Val) single nucleotide variant not provided [RCV001995799] Chr15:61964765 [GRCh38]
Chr15:62256964 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8354G>A (p.Arg2785His) single nucleotide variant not provided [RCV001903954] Chr15:61915724 [GRCh38]
Chr15:62207923 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8743_8744delinsCT (p.Ser2915Leu) indel not provided [RCV002048738] Chr15:61910277..61910278 [GRCh38]
Chr15:62202476..62202477 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1699C>T (p.Arg567Ter) single nucleotide variant not provided [RCV001976270] Chr15:61984879 [GRCh38]
Chr15:62277078 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.101-1G>A single nucleotide variant not provided [RCV001930831] Chr15:62044256 [GRCh38]
Chr15:62336455 [GRCh37]
Chr15:15q22.2		 likely pathogenic|uncertain significance
NM_020821.3(VPS13C):c.7688A>G (p.Asn2563Ser) single nucleotide variant not provided [RCV001924412] Chr15:61918208 [GRCh38]
Chr15:62210407 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7324C>A (p.Leu2442Ile) single nucleotide variant not provided [RCV001935972] Chr15:61920220 [GRCh38]
Chr15:62212419 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5446C>G (p.Leu1816Val) single nucleotide variant not provided [RCV001878781] Chr15:61941770 [GRCh38]
Chr15:62233969 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5246A>T (p.Gln1749Leu) single nucleotide variant not provided [RCV001884433] Chr15:61941970 [GRCh38]
Chr15:62234169 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8018G>A (p.Arg2673Gln) single nucleotide variant not provided [RCV001981185] Chr15:61917378 [GRCh38]
Chr15:62209577 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2032C>G (p.Leu678Val) single nucleotide variant not provided [RCV001906921] Chr15:61981476 [GRCh38]
Chr15:62273675 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2554A>G (p.Ile852Val) single nucleotide variant not provided [RCV001997663] Chr15:61973517 [GRCh38]
Chr15:62265716 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.941A>G (p.Glu314Gly) single nucleotide variant not provided [RCV001960973] Chr15:62010542 [GRCh38]
Chr15:62302741 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5185T>G (p.Leu1729Val) single nucleotide variant not provided [RCV001937234] Chr15:61942031 [GRCh38]
Chr15:62234230 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2672G>A (p.Ser891Asn) single nucleotide variant not provided [RCV001959293] Chr15:61972710 [GRCh38]
Chr15:62264909 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.385+9T>G single nucleotide variant not provided [RCV002010932] Chr15:62033432 [GRCh38]
Chr15:62325631 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5122G>A (p.Val1708Ile) single nucleotide variant not provided [RCV001901008] Chr15:61945741 [GRCh38]
Chr15:62237940 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.583C>A (p.Gln195Lys) single nucleotide variant not provided [RCV001878071] Chr15:62023452 [GRCh38]
Chr15:62315651 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3527A>G (p.Lys1176Arg) single nucleotide variant not provided [RCV001981492] Chr15:61962447 [GRCh38]
Chr15:62254646 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3990T>A (p.Asn1330Lys) single nucleotide variant not provided [RCV001937528] Chr15:61959514 [GRCh38]
Chr15:62251713 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6079A>G (p.Met2027Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV004764855]|not provided [RCV001870134] Chr15:61929708 [GRCh38]
Chr15:62221907 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.127A>G (p.Ile43Val) single nucleotide variant not provided [RCV001883658] Chr15:62044229 [GRCh38]
Chr15:62336428 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1162A>G (p.Arg388Gly) single nucleotide variant not provided [RCV001999224] Chr15:62007436 [GRCh38]
Chr15:62299635 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2485A>G (p.Met829Val) single nucleotide variant not provided [RCV001878614] Chr15:61974341 [GRCh38]
Chr15:62266540 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7135A>C (p.Ile2379Leu) single nucleotide variant not provided [RCV002047680] Chr15:61920575 [GRCh38]
Chr15:62212774 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10598C>T (p.Thr3533Ile) single nucleotide variant not provided [RCV002034187] Chr15:61872015 [GRCh38]
Chr15:62164214 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3827G>A (p.Ser1276Asn) single nucleotide variant not provided [RCV001932029] Chr15:61961670 [GRCh38]
Chr15:62253869 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1156A>G (p.Ile386Val) single nucleotide variant not provided [RCV001925229] Chr15:62007442 [GRCh38]
Chr15:62299641 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5171C>T (p.Thr1724Ile) single nucleotide variant Inborn genetic diseases [RCV002557696]|not provided [RCV001933034] Chr15:61942045 [GRCh38]
Chr15:62234244 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7724C>T (p.Pro2575Leu) single nucleotide variant not provided [RCV001952093] Chr15:61918172 [GRCh38]
Chr15:62210371 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6257C>T (p.Thr2086Ile) single nucleotide variant not provided [RCV002013313] Chr15:61929530 [GRCh38]
Chr15:62221729 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9526C>T (p.Arg3176Cys) single nucleotide variant not provided [RCV001952816] Chr15:61882694 [GRCh38]
Chr15:62174893 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.11057T>C (p.Val3686Ala) single nucleotide variant not provided [RCV001933983] Chr15:61856305 [GRCh38]
Chr15:62148504 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2377G>A (p.Ala793Thr) single nucleotide variant not provided [RCV001897243] Chr15:61977113 [GRCh38]
Chr15:62269312 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3649G>A (p.Ala1217Thr) single nucleotide variant not provided [RCV001917843] Chr15:61961848 [GRCh38]
Chr15:62254047 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9614A>G (p.Tyr3205Cys) single nucleotide variant not provided [RCV001875519] Chr15:61882606 [GRCh38]
Chr15:62174805 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4051A>G (p.Met1351Val) single nucleotide variant not provided [RCV001878502] Chr15:61959453 [GRCh38]
Chr15:62251652 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10121A>C (p.Asp3374Ala) single nucleotide variant not provided [RCV002015336] Chr15:61878628 [GRCh38]
Chr15:62170827 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.776G>A (p.Trp259Ter) single nucleotide variant not provided [RCV001866591] Chr15:62013088 [GRCh38]
Chr15:62305287 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1126T>C (p.Tyr376His) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003138050]|not provided [RCV002027413] Chr15:62007472 [GRCh38]
Chr15:62299671 [GRCh37]
Chr15:15q22.2		 uncertain significance
NC_000015.9:g.(?_62146656)_(63358098_?)dup duplication not provided [RCV002012053] Chr15:62146656..63358098 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3466C>T (p.Arg1156Cys) single nucleotide variant not provided [RCV001990537] Chr15:61962508 [GRCh38]
Chr15:62254707 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2030-9C>T single nucleotide variant VPS13C-related disorder [RCV003913579]|not provided [RCV002208826] Chr15:61981487 [GRCh38]
Chr15:62273686 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7639-10dup duplication not provided [RCV002109200] Chr15:61918266..61918267 [GRCh38]
Chr15:62210465..62210466 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2912-4C>T single nucleotide variant not provided [RCV002075920] Chr15:61967451 [GRCh38]
Chr15:62259650 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8055+19G>T single nucleotide variant not provided [RCV002090833] Chr15:61917322 [GRCh38]
Chr15:62209521 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10578+17A>G single nucleotide variant not provided [RCV002076024] Chr15:61873229 [GRCh38]
Chr15:62165428 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.999G>A (p.Leu333=) single nucleotide variant not provided [RCV002205097] Chr15:62010484 [GRCh38]
Chr15:62302683 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.283+13A>G single nucleotide variant not provided [RCV002076157] Chr15:62034944 [GRCh38]
Chr15:62327143 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7477+15T>G single nucleotide variant not provided [RCV002124970] Chr15:61920052 [GRCh38]
Chr15:62212251 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8845-10dup duplication not provided [RCV002209880] Chr15:61909134..61909135 [GRCh38]
Chr15:62201333..62201334 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5453+20T>C single nucleotide variant not provided [RCV002126376] Chr15:61941743 [GRCh38]
Chr15:62233942 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.243G>A (p.Ala81=) single nucleotide variant not provided [RCV002166341] Chr15:62034997 [GRCh38]
Chr15:62327196 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7063-19G>A single nucleotide variant not provided [RCV002091687] Chr15:61920666 [GRCh38]
Chr15:62212865 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7845T>G (p.Leu2615=) single nucleotide variant not provided [RCV002145203] Chr15:61917551 [GRCh38]
Chr15:62209750 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7761-13C>G single nucleotide variant not provided [RCV002090262] Chr15:61917648 [GRCh38]
Chr15:62209847 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6456A>G (p.Arg2152=) single nucleotide variant not provided [RCV002208834] Chr15:61927151 [GRCh38]
Chr15:62219350 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2290+12T>C single nucleotide variant not provided [RCV002085400] Chr15:61978614 [GRCh38]
Chr15:62270813 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6636G>C (p.Val2212=) single nucleotide variant VPS13C-related disorder [RCV003923554]|not provided [RCV002085637] Chr15:61922736 [GRCh38]
Chr15:62214935 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4434T>C (p.Ser1478=) single nucleotide variant not provided [RCV002089325] Chr15:61951846 [GRCh38]
Chr15:62244045 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.8978+1G>A single nucleotide variant not provided [RCV002224372] Chr15:61908991 [GRCh38]
Chr15:62201190 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.4747G>A (p.Ala1583Thr) single nucleotide variant not provided [RCV002087977] Chr15:61949455 [GRCh38]
Chr15:62241654 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1291-9T>A single nucleotide variant VPS13C-related disorder [RCV003903615]|not provided [RCV002206383] Chr15:62000635 [GRCh38]
Chr15:62292834 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8655C>T (p.Gly2885=) single nucleotide variant not provided [RCV002106309] Chr15:61911900 [GRCh38]
Chr15:62204099 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7477+18del deletion not provided [RCV002124781] Chr15:61920049 [GRCh38]
Chr15:62212248 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1291-4A>G single nucleotide variant not provided [RCV002127488] Chr15:62000630 [GRCh38]
Chr15:62292829 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9776+20G>A single nucleotide variant not provided [RCV002072820] Chr15:61881543 [GRCh38]
Chr15:62173742 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7638+8T>C single nucleotide variant not provided [RCV002189814] Chr15:61919281 [GRCh38]
Chr15:62211480 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1731G>A (p.Ala577=) single nucleotide variant not provided [RCV002106641] Chr15:61984003 [GRCh38]
Chr15:62276202 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7728A>G (p.Glu2576=) single nucleotide variant not provided [RCV002088014] Chr15:61918168 [GRCh38]
Chr15:62210367 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9625-18C>T single nucleotide variant not provided [RCV002167633] Chr15:61881846 [GRCh38]
Chr15:62174045 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9483+18T>C single nucleotide variant not provided [RCV002105368] Chr15:61884110 [GRCh38]
Chr15:62176309 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3588C>T (p.Phe1196=) single nucleotide variant not provided [RCV002094770] Chr15:61962386 [GRCh38]
Chr15:62254585 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5636T>G (p.Met1879Arg) single nucleotide variant not provided [RCV002171790] Chr15:61936716 [GRCh38]
Chr15:62228915 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4457-19dup duplication not provided [RCV002124749] Chr15:61951042..61951043 [GRCh38]
Chr15:62243241..62243242 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2270A>G (p.Gln757Arg) single nucleotide variant not provided [RCV002124808] Chr15:61978646 [GRCh38]
Chr15:62270845 [GRCh37]
Chr15:15q22.2		 benign|conflicting interpretations of pathogenicity
NM_020821.3(VPS13C):c.4926C>T (p.Ala1642=) single nucleotide variant not provided [RCV002092948] Chr15:61946361 [GRCh38]
Chr15:62238560 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.625-4G>C single nucleotide variant not provided [RCV002215376] Chr15:62020542 [GRCh38]
Chr15:62312741 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5166C>T (p.Phe1722=) single nucleotide variant not provided [RCV002150008] Chr15:61942050 [GRCh38]
Chr15:62234249 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9770A>T (p.Gln3257Leu) single nucleotide variant not provided [RCV002211308] Chr15:61881569 [GRCh38]
Chr15:62173768 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.11077-17T>C single nucleotide variant not provided [RCV002078016] Chr15:61854971 [GRCh38]
Chr15:62147170 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6132T>A (p.Val2044=) single nucleotide variant not provided [RCV002115007] Chr15:61929655 [GRCh38]
Chr15:62221854 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10952+19A>G single nucleotide variant not provided [RCV002153385] Chr15:61863421 [GRCh38]
Chr15:62155620 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1291-13C>T single nucleotide variant not provided [RCV002081012] Chr15:62000639 [GRCh38]
Chr15:62292838 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3604-5C>T single nucleotide variant not provided [RCV002076399] Chr15:61961898 [GRCh38]
Chr15:62254097 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1483+14C>G single nucleotide variant not provided [RCV002090028] Chr15:61991659 [GRCh38]
Chr15:62283858 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7213-13T>C single nucleotide variant not provided [RCV002116181] Chr15:61920344 [GRCh38]
Chr15:62212543 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9484-13G>A single nucleotide variant not provided [RCV002174863] Chr15:61882749 [GRCh38]
Chr15:62174948 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7761-6C>T single nucleotide variant not provided [RCV002212557] Chr15:61917641 [GRCh38]
Chr15:62209840 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3543G>A (p.Leu1181=) single nucleotide variant not provided [RCV002105149] Chr15:61962431 [GRCh38]
Chr15:62254630 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.192A>G (p.Lys64=) single nucleotide variant not provided [RCV002097172] Chr15:62035048 [GRCh38]
Chr15:62327247 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.448+18A>G single nucleotide variant not provided [RCV002097198] Chr15:62028340 [GRCh38]
Chr15:62320539 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.100+10del deletion not provided [RCV002090551] Chr15:62060265 [GRCh38]
Chr15:62352464 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5871A>G (p.Glu1957=) single nucleotide variant not provided [RCV002152265] Chr15:61931257 [GRCh38]
Chr15:62223456 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1915-13_1915-12del deletion not provided [RCV002132344] Chr15:61982585..61982586 [GRCh38]
Chr15:62274784..62274785 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10224+17G>A single nucleotide variant not provided [RCV002132355] Chr15:61876956 [GRCh38]
Chr15:62169155 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.448+12T>C single nucleotide variant not provided [RCV002078067] Chr15:62028346 [GRCh38]
Chr15:62320545 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7478-7G>A single nucleotide variant not provided [RCV002076983] Chr15:61919456 [GRCh38]
Chr15:62211655 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1914+11G>A single nucleotide variant not provided [RCV002173085] Chr15:61983809 [GRCh38]
Chr15:62276008 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3603+16G>T single nucleotide variant not provided [RCV002129216] Chr15:61962355 [GRCh38]
Chr15:62254554 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.432C>T (p.Tyr144=) single nucleotide variant not provided [RCV002172303] Chr15:62028374 [GRCh38]
Chr15:62320573 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9707-19T>C single nucleotide variant not provided [RCV002152314] Chr15:61881651 [GRCh38]
Chr15:62173850 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.11127A>C (p.Arg3709=) single nucleotide variant not provided [RCV002076300] Chr15:61854904 [GRCh38]
Chr15:62147103 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.884-18C>A single nucleotide variant not provided [RCV002134338] Chr15:62010617 [GRCh38]
Chr15:62302816 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3816T>C (p.His1272=) single nucleotide variant not provided [RCV002106223] Chr15:61961681 [GRCh38]
Chr15:62253880 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2409-19C>G single nucleotide variant not provided [RCV002150767] Chr15:61974436 [GRCh38]
Chr15:62266635 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.685-20T>C single nucleotide variant not provided [RCV002152069] Chr15:62014012 [GRCh38]
Chr15:62306211 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4065A>G (p.Leu1355=) single nucleotide variant not provided [RCV002174508] Chr15:61958708 [GRCh38]
Chr15:62250907 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2757+14dup duplication not provided [RCV002132256] Chr15:61972610..61972611 [GRCh38]
Chr15:62264809..62264810 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7764T>C (p.Cys2588=) single nucleotide variant not provided [RCV002197103] Chr15:61917632 [GRCh38]
Chr15:62209831 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.145-20A>G single nucleotide variant not provided [RCV002149909] Chr15:62041386 [GRCh38]
Chr15:62333585 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9341+12G>A single nucleotide variant not provided [RCV002122842] Chr15:61890153 [GRCh38]
Chr15:62182352 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7213-8C>T single nucleotide variant not provided [RCV002103509] Chr15:61920339 [GRCh38]
Chr15:62212538 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.951G>A (p.Thr317=) single nucleotide variant VPS13C-related disorder [RCV004752158]|not provided [RCV002136897] Chr15:62010532 [GRCh38]
Chr15:62302731 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.6287-19C>G single nucleotide variant not provided [RCV002136907] Chr15:61927339 [GRCh38]
Chr15:62219538 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4057-18del deletion not provided [RCV002218306] Chr15:61958734 [GRCh38]
Chr15:62250933 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6287-10del deletion not provided [RCV002220676] Chr15:61927330 [GRCh38]
Chr15:62219529 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4300-10C>T single nucleotide variant not provided [RCV002198073] Chr15:61951990 [GRCh38]
Chr15:62244189 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7212+13C>T single nucleotide variant not provided [RCV002141322] Chr15:61920485 [GRCh38]
Chr15:62212684 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.685-17T>A single nucleotide variant not provided [RCV002102226] Chr15:62014009 [GRCh38]
Chr15:62306208 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6930A>G (p.Lys2310=) single nucleotide variant not provided [RCV002198437] Chr15:61922442 [GRCh38]
Chr15:62214641 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.103A>T (p.Asn35Tyr) single nucleotide variant not provided [RCV002100709] Chr15:62044253 [GRCh38]
Chr15:62336452 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.144+13dup duplication not provided [RCV002082661] Chr15:62044198..62044199 [GRCh38]
Chr15:62336397..62336398 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6294T>C (p.Ser2098=) single nucleotide variant not provided [RCV002083204] Chr15:61927313 [GRCh38]
Chr15:62219512 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3324G>A (p.Lys1108=) single nucleotide variant not provided [RCV002197799] Chr15:61963842 [GRCh38]
Chr15:62256041 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2912-19dup duplication not provided [RCV002154053] Chr15:61967465..61967466 [GRCh38]
Chr15:62259664..62259665 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7861G>A (p.Val2621Ile) single nucleotide variant not provided [RCV002135579] Chr15:61917535 [GRCh38]
Chr15:62209734 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.2618-13C>A single nucleotide variant not provided [RCV002184758] Chr15:61972777 [GRCh38]
Chr15:62264976 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1374A>G (p.Lys458=) single nucleotide variant not provided [RCV002181507] Chr15:61991782 [GRCh38]
Chr15:62283981 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6858C>T (p.Thr2286=) single nucleotide variant not provided [RCV002218954] Chr15:61922514 [GRCh38]
Chr15:62214713 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.448+7A>G single nucleotide variant not provided [RCV002204584] Chr15:62028351 [GRCh38]
Chr15:62320550 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6024G>C (p.Glu2008Asp) single nucleotide variant VPS13C-related disorder [RCV003978586]|not provided [RCV002217594] Chr15:61931104 [GRCh38]
Chr15:62223303 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.6516+19C>G single nucleotide variant not provided [RCV002176275] Chr15:61927072 [GRCh38]
Chr15:62219271 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9706+7T>A single nucleotide variant not provided [RCV002160720] Chr15:61881740 [GRCh38]
Chr15:62173939 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4057-18dup duplication not provided [RCV002142338] Chr15:61958733..61958734 [GRCh38]
Chr15:62250932..62250933 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4980+15G>T single nucleotide variant not provided [RCV002197880] Chr15:61946292 [GRCh38]
Chr15:62238491 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.825+18T>C single nucleotide variant not provided [RCV002122959] Chr15:62013021 [GRCh38]
Chr15:62305220 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.745-4A>G single nucleotide variant not provided [RCV002184474] Chr15:62013123 [GRCh38]
Chr15:62305322 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2911+17T>C single nucleotide variant not provided [RCV002200192] Chr15:61969282 [GRCh38]
Chr15:62261481 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7902C>T (p.Phe2634=) single nucleotide variant not provided [RCV002182977] Chr15:61917494 [GRCh38]
Chr15:62209693 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9080A>G (p.Asn3027Ser) single nucleotide variant not provided [RCV002123598] Chr15:61907289 [GRCh38]
Chr15:62199488 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3909-5C>T single nucleotide variant not provided [RCV002161937] Chr15:61959600 [GRCh38]
Chr15:62251799 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.744+19A>G single nucleotide variant not provided [RCV002099138] Chr15:62013914 [GRCh38]
Chr15:62306113 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5522C>T (p.Ser1841Phe) single nucleotide variant not provided [RCV002183544] Chr15:61940726 [GRCh38]
Chr15:62232925 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.6287-19C>T single nucleotide variant not provided [RCV002120973] Chr15:61927339 [GRCh38]
Chr15:62219538 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9195C>T (p.Thr3065=) single nucleotide variant not provided [RCV002199514] Chr15:61890311 [GRCh38]
Chr15:62182510 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9849G>A (p.Leu3283=) single nucleotide variant not provided [RCV002203318] Chr15:61880882 [GRCh38]
Chr15:62173081 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3501G>A (p.Glu1167=) single nucleotide variant not provided [RCV002135517] Chr15:61962473 [GRCh38]
Chr15:62254672 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8111C>T (p.Ser2704Leu) single nucleotide variant not provided [RCV002117673] Chr15:61915967 [GRCh38]
Chr15:62208166 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8733A>G (p.Pro2911=) single nucleotide variant not provided [RCV002159750] Chr15:61910288 [GRCh38]
Chr15:62202487 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6537A>G (p.Leu2179=) single nucleotide variant not provided [RCV002162150] Chr15:61925528 [GRCh38]
Chr15:62217727 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8766G>A (p.Val2922=) single nucleotide variant not provided [RCV002100343] Chr15:61910255 [GRCh38]
Chr15:62202454 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7494A>G (p.Thr2498=) single nucleotide variant not provided [RCV002155534] Chr15:61919433 [GRCh38]
Chr15:62211632 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8716-10A>G single nucleotide variant VPS13C-related disorder [RCV003970868]|not provided [RCV002122271] Chr15:61910315 [GRCh38]
Chr15:62202514 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5991A>G (p.Thr1997=) single nucleotide variant not provided [RCV002176827] Chr15:61931137 [GRCh38]
Chr15:62223336 [GRCh37]
Chr15:15q22.2		 likely benign
NC_000015.9:g.(?_62210455)_(62213811_?)del deletion not provided [RCV003109772] Chr15:62210455..62213811 [GRCh37]
Chr15:15q22.2		 uncertain significance
NC_000015.9:g.(?_62146656)_(62352573_?)dup duplication not provided [RCV003109773] Chr15:62146656..62352573 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9384G>A (p.Lys3128=) single nucleotide variant not provided [RCV003118220] Chr15:61884227 [GRCh38]
Chr15:62176426 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4300-10C>G single nucleotide variant not provided [RCV003116954] Chr15:61951990 [GRCh38]
Chr15:62244189 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1692A>G (p.Val564=) single nucleotide variant not provided [RCV003112013] Chr15:61984886 [GRCh38]
Chr15:62277085 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7996C>G (p.Leu2666Val) single nucleotide variant not provided [RCV003115440] Chr15:61917400 [GRCh38]
Chr15:62209599 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9404T>C (p.Ile3135Thr) single nucleotide variant not provided [RCV003112688] Chr15:61884207 [GRCh38]
Chr15:62176406 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5855A>G (p.Asn1952Ser) single nucleotide variant not provided [RCV003112345] Chr15:61934232 [GRCh38]
Chr15:62226431 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8478C>T (p.Ser2826=) single nucleotide variant not provided [RCV003121719] Chr15:61913383 [GRCh38]
Chr15:62205582 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6726del (p.Lys2242fs) deletion Autosomal recessive early-onset Parkinson disease 23 [RCV004797193] Chr15:61922646 [GRCh38]
Chr15:62214845 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.3196_3197delinsT (p.Asn1066fs) indel not provided [RCV002275512] Chr15:61964716..61964717 [GRCh38]
Chr15:62256915..62256916 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.8500G>C (p.Val2834Leu) single nucleotide variant not provided [RCV002283177] Chr15:61913361 [GRCh38]
Chr15:62205560 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1304C>T (p.Thr435Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV002471612] Chr15:62000613 [GRCh38]
Chr15:62292812 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5149-7C>T single nucleotide variant not provided [RCV002750094] Chr15:61942074 [GRCh38]
Chr15:62234273 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2029+20A>G single nucleotide variant not provided [RCV002681797] Chr15:61982439 [GRCh38]
Chr15:62274638 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.835A>C (p.Lys279Gln) single nucleotide variant not provided [RCV003480134] Chr15:62012155 [GRCh38]
Chr15:62304354 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4000_4001delinsAA (p.Ser1334Asn) indel not provided [RCV002904118] Chr15:61959503..61959504 [GRCh38]
Chr15:62251702..62251703 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9823G>C (p.Gly3275Arg) single nucleotide variant not provided [RCV002816678] Chr15:61880908 [GRCh38]
Chr15:62173107 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6830G>A (p.Gly2277Asp) single nucleotide variant not provided [RCV002775085] Chr15:61922542 [GRCh38]
Chr15:62214741 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.11160+14A>C single nucleotide variant not provided [RCV002904301] Chr15:61854857 [GRCh38]
Chr15:62147056 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9514C>G (p.Arg3172Gly) single nucleotide variant not provided [RCV002751635] Chr15:61882706 [GRCh38]
Chr15:62174905 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.817C>G (p.Gln273Glu) single nucleotide variant not provided [RCV002838096] Chr15:62013047 [GRCh38]
Chr15:62305246 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10508G>A (p.Arg3503Lys) single nucleotide variant not provided [RCV002904916] Chr15:61873316 [GRCh38]
Chr15:62165515 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9850_9854dup (p.Pro3286fs) duplication not provided [RCV002841951] Chr15:61880876..61880877 [GRCh38]
Chr15:62173075..62173076 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8552T>G (p.Val2851Gly) single nucleotide variant not provided [RCV003013484] Chr15:61912003 [GRCh38]
Chr15:62204202 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10748+18A>G single nucleotide variant not provided [RCV002730617] Chr15:61869482 [GRCh38]
Chr15:62161681 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10292G>A (p.Arg3431Lys) single nucleotide variant Inborn genetic diseases [RCV002816745] Chr15:61875778 [GRCh38]
Chr15:62167977 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10724G>C (p.Ser3575Thr) single nucleotide variant Inborn genetic diseases [RCV002776692] Chr15:61869524 [GRCh38]
Chr15:62161723 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1098T>A (p.Leu366=) single nucleotide variant VPS13C-related disorder [RCV003936466]|not provided [RCV002971818] Chr15:62008675 [GRCh38]
Chr15:62300874 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8395G>A (p.Asp2799Asn) single nucleotide variant not provided [RCV003015044] Chr15:61915683 [GRCh38]
Chr15:62207882 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9038A>G (p.Asp3013Gly) single nucleotide variant Inborn genetic diseases [RCV002732997] Chr15:61907331 [GRCh38]
Chr15:62199530 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3018A>G (p.Gln1006=) single nucleotide variant VPS13C-related disorder [RCV003926569]|not provided [RCV002948157] Chr15:61966116 [GRCh38]
Chr15:62258315 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3652A>G (p.Thr1218Ala) single nucleotide variant not provided [RCV003076520] Chr15:61961845 [GRCh38]
Chr15:62254044 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8023C>T (p.Leu2675Phe) single nucleotide variant not provided [RCV002755186] Chr15:61917373 [GRCh38]
Chr15:62209572 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10284A>C (p.Gly3428=) single nucleotide variant not provided [RCV002734920] Chr15:61875786 [GRCh38]
Chr15:62167985 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8433T>C (p.Phe2811=) single nucleotide variant not provided [RCV002995976] Chr15:61915645 [GRCh38]
Chr15:62207844 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9043A>G (p.Thr3015Ala) single nucleotide variant not provided [RCV002750179] Chr15:61907326 [GRCh38]
Chr15:62199525 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7465A>G (p.Thr2489Ala) single nucleotide variant Inborn genetic diseases [RCV002732960] Chr15:61920079 [GRCh38]
Chr15:62212278 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9173G>T (p.Arg3058Leu) single nucleotide variant Inborn genetic diseases [RCV002778227] Chr15:61890333 [GRCh38]
Chr15:62182532 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10339-20T>A single nucleotide variant not provided [RCV002731073] Chr15:61874971 [GRCh38]
Chr15:62167170 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3122C>A (p.Thr1041Asn) single nucleotide variant not provided [RCV002685684] Chr15:61964791 [GRCh38]
Chr15:62256990 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7236T>C (p.Ser2412=) single nucleotide variant not provided [RCV002755947] Chr15:61920308 [GRCh38]
Chr15:62212507 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10756G>C (p.Glu3586Gln) single nucleotide variant not provided [RCV002756302] Chr15:61868766 [GRCh38]
Chr15:62160965 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6949G>T (p.Ala2317Ser) single nucleotide variant not provided [RCV003076762] Chr15:61922423 [GRCh38]
Chr15:62214622 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9338C>T (p.Thr3113Ile) single nucleotide variant not provided [RCV003016140] Chr15:61890168 [GRCh38]
Chr15:62182367 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2779C>T (p.Gln927Ter) single nucleotide variant not provided [RCV002841952] Chr15:61969431 [GRCh38]
Chr15:62261630 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9342-16dup duplication not provided [RCV002681463] Chr15:61884284..61884285 [GRCh38]
Chr15:62176483..62176484 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9707-4T>G single nucleotide variant not provided [RCV002755359] Chr15:61881636 [GRCh38]
Chr15:62173835 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6039-4del deletion not provided [RCV002508573] Chr15:61929752 [GRCh38]
Chr15:62221951 [GRCh37]
Chr15:15q22.2		 conflicting interpretations of pathogenicity
NM_020821.3(VPS13C):c.4506C>T (p.Asp1502=) single nucleotide variant Inborn genetic diseases [RCV004066203]|not provided [RCV002904081] Chr15:61950975 [GRCh38]
Chr15:62243174 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.5601+1G>C single nucleotide variant not provided [RCV002880475] Chr15:61940646 [GRCh38]
Chr15:62232845 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9150C>G (p.His3050Gln) single nucleotide variant Inborn genetic diseases [RCV002681449]|not provided [RCV002681450] Chr15:61890356 [GRCh38]
Chr15:62182555 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1242C>T (p.Asn414=) single nucleotide variant not provided [RCV002904133] Chr15:62007356 [GRCh38]
Chr15:62299555 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4462A>G (p.Lys1488Glu) single nucleotide variant not provided [RCV002731043] Chr15:61951019 [GRCh38]
Chr15:62243218 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10148C>T (p.Ala3383Val) single nucleotide variant not provided [RCV002727302] Chr15:61877049 [GRCh38]
Chr15:62169248 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10997G>A (p.Cys3666Tyr) single nucleotide variant not provided [RCV002726859] Chr15:61856365 [GRCh38]
Chr15:62148564 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4120G>A (p.Gly1374Ser) single nucleotide variant not provided [RCV003014097] Chr15:61958653 [GRCh38]
Chr15:62250852 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.970A>G (p.Ile324Val) single nucleotide variant not provided [RCV002614988] Chr15:62010513 [GRCh38]
Chr15:62302712 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.623_624+1del microsatellite not provided [RCV002994743] Chr15:62023410..62023412 [GRCh38]
Chr15:62315609..62315611 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4723C>A (p.Leu1575Ile) single nucleotide variant Inborn genetic diseases [RCV002688537] Chr15:61949479 [GRCh38]
Chr15:62241678 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1256C>T (p.Ser419Phe) single nucleotide variant Inborn genetic diseases [RCV002683171] Chr15:62007342 [GRCh38]
Chr15:62299541 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6809C>G (p.Ser2270Ter) single nucleotide variant not provided [RCV002750839] Chr15:61922563 [GRCh38]
Chr15:62214762 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8677A>G (p.Met2893Val) single nucleotide variant not provided [RCV002731177] Chr15:61911878 [GRCh38]
Chr15:62204077 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.11250A>G (p.Gln3750=) single nucleotide variant not provided [RCV002994846] Chr15:61854469 [GRCh38]
Chr15:62146668 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9542G>A (p.Arg3181Gln) single nucleotide variant Inborn genetic diseases [RCV002732494] Chr15:61882678 [GRCh38]
Chr15:62174877 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6689A>T (p.Asp2230Val) single nucleotide variant Inborn genetic diseases [RCV002793462] Chr15:61922683 [GRCh38]
Chr15:62214882 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10625G>A (p.Gly3542Asp) single nucleotide variant Inborn genetic diseases [RCV002732493] Chr15:61869623 [GRCh38]
Chr15:62161822 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4980+8A>C single nucleotide variant not provided [RCV002857877] Chr15:61946299 [GRCh38]
Chr15:62238498 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2992-6T>C single nucleotide variant not provided [RCV002615877] Chr15:61966148 [GRCh38]
Chr15:62258347 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.350G>A (p.Arg117Gln) single nucleotide variant not provided [RCV002755869] Chr15:62033476 [GRCh38]
Chr15:62325675 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7848T>C (p.His2616=) single nucleotide variant not provided [RCV002838974] Chr15:61917548 [GRCh38]
Chr15:62209747 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7555A>G (p.Asn2519Asp) single nucleotide variant Inborn genetic diseases [RCV002778564] Chr15:61919372 [GRCh38]
Chr15:62211571 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5317T>C (p.Ser1773Pro) single nucleotide variant not provided [RCV002614829] Chr15:61941899 [GRCh38]
Chr15:62234098 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2928C>T (p.Pro976=) single nucleotide variant not provided [RCV002953575] Chr15:61967431 [GRCh38]
Chr15:62259630 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8980G>T (p.Gly2994Trp) single nucleotide variant not provided [RCV002800514] Chr15:61907389 [GRCh38]
Chr15:62199588 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.825+2T>C single nucleotide variant not provided [RCV002735409] Chr15:62013037 [GRCh38]
Chr15:62305236 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.515-12A>G single nucleotide variant not provided [RCV002663000] Chr15:62023532 [GRCh38]
Chr15:62315731 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.160C>T (p.Pro54Ser) single nucleotide variant not provided [RCV002824446] Chr15:62041351 [GRCh38]
Chr15:62333550 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7063-14_7063-11del deletion not provided [RCV002871342] Chr15:61920658..61920661 [GRCh38]
Chr15:62212857..62212860 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8628C>G (p.Asn2876Lys) single nucleotide variant not provided [RCV003021601] Chr15:61911927 [GRCh38]
Chr15:62204126 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10509A>C (p.Arg3503Ser) single nucleotide variant not provided [RCV003054192] Chr15:61873315 [GRCh38]
Chr15:62165514 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7160T>C (p.Met2387Thr) single nucleotide variant Inborn genetic diseases [RCV003002812]|not provided [RCV003002811] Chr15:61920550 [GRCh38]
Chr15:62212749 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5602-2A>G single nucleotide variant not provided [RCV002825175] Chr15:61936752 [GRCh38]
Chr15:62228951 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6450T>C (p.Ser2150=) single nucleotide variant not provided [RCV002927814] Chr15:61927157 [GRCh38]
Chr15:62219356 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.3777C>G (p.Thr1259=) single nucleotide variant VPS13C-related disorder [RCV003926537]|not provided [RCV002927815] Chr15:61961720 [GRCh38]
Chr15:62253919 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.1722-19G>A single nucleotide variant not provided [RCV002640194] Chr15:61984031 [GRCh38]
Chr15:62276230 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4782G>T (p.Lys1594Asn) single nucleotide variant not provided [RCV002696200] Chr15:61947287 [GRCh38]
Chr15:62239486 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3591T>G (p.Leu1197=) single nucleotide variant not provided [RCV002976529] Chr15:61962383 [GRCh38]
Chr15:62254582 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10793G>A (p.Arg3598His) single nucleotide variant not provided [RCV002695542] Chr15:61868729 [GRCh38]
Chr15:62160928 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4195A>T (p.Ile1399Leu) single nucleotide variant not provided [RCV002914032] Chr15:61954525 [GRCh38]
Chr15:62246724 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4716G>A (p.Leu1572=) single nucleotide variant not provided [RCV002640329] Chr15:61949486 [GRCh38]
Chr15:62241685 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9105+16A>G single nucleotide variant not provided [RCV003053864] Chr15:61907248 [GRCh38]
Chr15:62199447 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8591G>A (p.Arg2864Gln) single nucleotide variant not provided [RCV002662800] Chr15:61911964 [GRCh38]
Chr15:62204163 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1415_1416delinsTT (p.Gly472Val) indel not provided [RCV002735408] Chr15:61991740..61991741 [GRCh38]
Chr15:62283939..62283940 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4536+1G>A single nucleotide variant not provided [RCV003018940] Chr15:61950944 [GRCh38]
Chr15:62243143 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6404A>G (p.Asn2135Ser) single nucleotide variant Inborn genetic diseases [RCV002690920]|not provided [RCV002690919] Chr15:61927203 [GRCh38]
Chr15:62219402 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5560A>G (p.Ile1854Val) single nucleotide variant not provided [RCV002735812] Chr15:61940688 [GRCh38]
Chr15:62232887 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6393G>A (p.Ser2131=) single nucleotide variant not provided [RCV002636648] Chr15:61927214 [GRCh38]
Chr15:62219413 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7178A>C (p.Lys2393Thr) single nucleotide variant not provided [RCV002912730] Chr15:61920532 [GRCh38]
Chr15:62212731 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.50A>G (p.Asp17Gly) single nucleotide variant not provided [RCV002620045] Chr15:62060325 [GRCh38]
Chr15:62352524 [GRCh37]
Chr15:15q22.2		 uncertain significance
NC_000015.9:g.(62211649_62212265)_(62352665_?)dup duplication not specified [RCV002510347] Chr15:62212265..62352665 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.457C>T (p.Arg153Cys) single nucleotide variant not provided [RCV003079332] Chr15:62023837 [GRCh38]
Chr15:62316036 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8620A>G (p.Ile2874Val) single nucleotide variant not provided [RCV002620720] Chr15:61911935 [GRCh38]
Chr15:62204134 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2290+8G>A single nucleotide variant not provided [RCV002690922] Chr15:61978618 [GRCh38]
Chr15:62270817 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4992T>G (p.Ile1664Met) single nucleotide variant Inborn genetic diseases [RCV002659973] Chr15:61945871 [GRCh38]
Chr15:62238070 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8979-9G>T single nucleotide variant not provided [RCV002999321] Chr15:61907399 [GRCh38]
Chr15:62199598 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.11112T>A (p.Asn3704Lys) single nucleotide variant Inborn genetic diseases [RCV002692828] Chr15:61854919 [GRCh38]
Chr15:62147118 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6516+12C>A single nucleotide variant not provided [RCV003037629] Chr15:61927079 [GRCh38]
Chr15:62219278 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7528C>T (p.Arg2510Trp) single nucleotide variant not provided [RCV002592221] Chr15:61919399 [GRCh38]
Chr15:62211598 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5620G>A (p.Asp1874Asn) single nucleotide variant not provided [RCV002706024] Chr15:61936732 [GRCh38]
Chr15:62228931 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4669G>C (p.Ala1557Pro) single nucleotide variant not provided [RCV002979766] Chr15:61949533 [GRCh38]
Chr15:62241732 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.895A>G (p.Ile299Val) single nucleotide variant not provided [RCV002569591] Chr15:62010588 [GRCh38]
Chr15:62302787 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5524A>G (p.Ile1842Val) single nucleotide variant Inborn genetic diseases [RCV002798151] Chr15:61940724 [GRCh38]
Chr15:62232923 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.884-11T>C single nucleotide variant not provided [RCV002640012] Chr15:62010610 [GRCh38]
Chr15:62302809 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1925A>G (p.Asn642Ser) single nucleotide variant not provided [RCV002909225] Chr15:61982563 [GRCh38]
Chr15:62274762 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1656A>G (p.Ile552Met) single nucleotide variant not provided [RCV002824451] Chr15:61984922 [GRCh38]
Chr15:62277121 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2719G>A (p.Glu907Lys) single nucleotide variant Inborn genetic diseases [RCV002661805] Chr15:61972663 [GRCh38]
Chr15:62264862 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1721+16C>G single nucleotide variant not provided [RCV002638645] Chr15:61984841 [GRCh38]
Chr15:62277040 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4495A>G (p.Asn1499Asp) single nucleotide variant not provided [RCV002979710] Chr15:61950986 [GRCh38]
Chr15:62243185 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7435A>G (p.Ile2479Val) single nucleotide variant not provided [RCV002927149] Chr15:61920109 [GRCh38]
Chr15:62212308 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10339-6dup duplication not provided [RCV002923552] Chr15:61874956..61874957 [GRCh38]
Chr15:62167155..62167156 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.7638+19T>C single nucleotide variant not provided [RCV002867527] Chr15:61919270 [GRCh38]
Chr15:62211469 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10939A>G (p.Met3647Val) single nucleotide variant not provided [RCV003020977] Chr15:61863453 [GRCh38]
Chr15:62155652 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6740A>G (p.Tyr2247Cys) single nucleotide variant not provided [RCV002622492] Chr15:61922632 [GRCh38]
Chr15:62214831 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8671G>C (p.Gly2891Arg) single nucleotide variant Inborn genetic diseases [RCV002797593] Chr15:61911884 [GRCh38]
Chr15:62204083 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10224+11A>G single nucleotide variant not provided [RCV002952514] Chr15:61876962 [GRCh38]
Chr15:62169161 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2059G>A (p.Val687Ile) single nucleotide variant not provided [RCV002797080] Chr15:61981449 [GRCh38]
Chr15:62273648 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10816A>G (p.Ile3606Val) single nucleotide variant not provided [RCV002979315] Chr15:61868706 [GRCh38]
Chr15:62160905 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2993C>A (p.Ala998Asp) single nucleotide variant not provided [RCV002706044] Chr15:61966141 [GRCh38]
Chr15:62258340 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9790C>T (p.Leu3264Phe) single nucleotide variant not provided [RCV002952727] Chr15:61880941 [GRCh38]
Chr15:62173140 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8055+12dup duplication not provided [RCV002691035] Chr15:61917328..61917329 [GRCh38]
Chr15:62209527..62209528 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10623A>G (p.Glu3541=) single nucleotide variant not provided [RCV002913413] Chr15:61871990 [GRCh38]
Chr15:62164189 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1880T>C (p.Val627Ala) single nucleotide variant not provided [RCV002619547] Chr15:61983854 [GRCh38]
Chr15:62276053 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.349C>T (p.Arg117Ter) single nucleotide variant not provided [RCV002639626] Chr15:62033477 [GRCh38]
Chr15:62325676 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.392A>G (p.His131Arg) single nucleotide variant not provided [RCV002913944] Chr15:62028414 [GRCh38]
Chr15:62320613 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3531G>A (p.Val1177=) single nucleotide variant VPS13C-related disorder [RCV003903763]|not provided [RCV002735588] Chr15:61962443 [GRCh38]
Chr15:62254642 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5489T>C (p.Ile1830Thr) single nucleotide variant not provided [RCV002923290] Chr15:61940759 [GRCh38]
Chr15:62232958 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9707-15A>T single nucleotide variant not provided [RCV002622634] Chr15:61881647 [GRCh38]
Chr15:62173846 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9777-17T>A single nucleotide variant not provided [RCV002638824] Chr15:61880971 [GRCh38]
Chr15:62173170 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1722-15_1722-13del microsatellite not provided [RCV002639285] Chr15:61984025..61984027 [GRCh38]
Chr15:62276224..62276226 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.694G>A (p.Glu232Lys) single nucleotide variant not provided [RCV003077979] Chr15:62013983 [GRCh38]
Chr15:62306182 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10414+15T>A single nucleotide variant not provided [RCV002636360] Chr15:61874861 [GRCh38]
Chr15:62167060 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2408+10A>G single nucleotide variant not provided [RCV002828724] Chr15:61977072 [GRCh38]
Chr15:62269271 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5393A>G (p.Tyr1798Cys) single nucleotide variant not provided [RCV002894897] Chr15:61941823 [GRCh38]
Chr15:62234022 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8072A>C (p.His2691Pro) single nucleotide variant not provided [RCV002710370] Chr15:61916006 [GRCh38]
Chr15:62208205 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10710C>T (p.Ile3570=) single nucleotide variant not provided [RCV002766113] Chr15:61869538 [GRCh38]
Chr15:62161737 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8981G>T (p.Gly2994Val) single nucleotide variant not provided [RCV002957852] Chr15:61907388 [GRCh38]
Chr15:62199587 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3985C>A (p.Arg1329=) single nucleotide variant not provided [RCV002957987] Chr15:61959519 [GRCh38]
Chr15:62251718 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8212C>T (p.Pro2738Ser) single nucleotide variant not provided [RCV002595207] Chr15:61915866 [GRCh38]
Chr15:62208065 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10406A>G (p.His3469Arg) single nucleotide variant Inborn genetic diseases [RCV002668063]|not provided [RCV002668064] Chr15:61874884 [GRCh38]
Chr15:62167083 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3331+3A>G single nucleotide variant not provided [RCV002830114] Chr15:61963832 [GRCh38]
Chr15:62256031 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.389C>G (p.Thr130Arg) single nucleotide variant not provided [RCV002851566] Chr15:62028417 [GRCh38]
Chr15:62320616 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4876+14T>G single nucleotide variant not provided [RCV002626938] Chr15:61947179 [GRCh38]
Chr15:62239378 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1219A>G (p.Ser407Gly) single nucleotide variant not provided [RCV003043251] Chr15:62007379 [GRCh38]
Chr15:62299578 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9624+19A>G single nucleotide variant not provided [RCV002666640] Chr15:61882577 [GRCh38]
Chr15:62174776 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3909-18C>G single nucleotide variant not provided [RCV002642879] Chr15:61959613 [GRCh38]
Chr15:62251812 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7638+6A>G single nucleotide variant not provided [RCV002933056] Chr15:61919283 [GRCh38]
Chr15:62211482 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2842A>T (p.Met948Leu) single nucleotide variant not provided [RCV002596008] Chr15:61969368 [GRCh38]
Chr15:62261567 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6457G>C (p.Asp2153His) single nucleotide variant not provided [RCV002805632] Chr15:61927150 [GRCh38]
Chr15:62219349 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6601del (p.Phe2200_Ile2201insTer) deletion not provided [RCV002872192] Chr15:61925464 [GRCh38]
Chr15:62217663 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1798A>G (p.Ile600Val) single nucleotide variant not provided [RCV002595914] Chr15:61983936 [GRCh38]
Chr15:62276135 [GRCh37]
Chr15:15q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_020821.3(VPS13C):c.11031A>G (p.Val3677=) single nucleotide variant not provided [RCV002710976] Chr15:61856331 [GRCh38]
Chr15:62148530 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.11212T>C (p.Leu3738=) single nucleotide variant not provided [RCV002643079] Chr15:61854507 [GRCh38]
Chr15:62146706 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.597A>G (p.Thr199=) single nucleotide variant not provided [RCV003022832] Chr15:62023438 [GRCh38]
Chr15:62315637 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1392T>A (p.Ala464=) single nucleotide variant not provided [RCV003082538] Chr15:61991764 [GRCh38]
Chr15:62283963 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1580A>G (p.Tyr527Cys) single nucleotide variant not provided [RCV002508749] Chr15:61984998 [GRCh38]
Chr15:62277197 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4443C>G (p.Cys1481Trp) single nucleotide variant not provided [RCV003056292] Chr15:61951837 [GRCh38]
Chr15:62244036 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3313G>A (p.Ala1105Thr) single nucleotide variant not provided [RCV002666581] Chr15:61963853 [GRCh38]
Chr15:62256052 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9776+19T>C single nucleotide variant not provided [RCV002642540] Chr15:61881544 [GRCh38]
Chr15:62173743 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5711G>A (p.Arg1904Lys) single nucleotide variant not provided [RCV002914538] Chr15:61936641 [GRCh38]
Chr15:62228840 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6667A>G (p.Thr2223Ala) single nucleotide variant not provided [RCV002890507] Chr15:61922705 [GRCh38]
Chr15:62214904 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.100+20C>T single nucleotide variant not provided [RCV002872819] Chr15:62060255 [GRCh38]
Chr15:62352454 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10864-14G>A single nucleotide variant not provided [RCV003006118] Chr15:61863542 [GRCh38]
Chr15:62155741 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2757+4T>C single nucleotide variant not provided [RCV002872824] Chr15:61972621 [GRCh38]
Chr15:62264820 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10142+16G>C single nucleotide variant not provided [RCV002643446] Chr15:61878591 [GRCh38]
Chr15:62170790 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7237A>G (p.Thr2413Ala) single nucleotide variant not provided [RCV002699997] Chr15:61920307 [GRCh38]
Chr15:62212506 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6693G>A (p.Thr2231=) single nucleotide variant not provided [RCV002929041] Chr15:61922679 [GRCh38]
Chr15:62214878 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.809C>T (p.Ser270Leu) single nucleotide variant not provided [RCV002664052] Chr15:62013055 [GRCh38]
Chr15:62305254 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3436-13C>G single nucleotide variant not provided [RCV002642718] Chr15:61962551 [GRCh38]
Chr15:62254750 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2620T>G (p.Ser874Ala) single nucleotide variant not provided [RCV002711149] Chr15:61972762 [GRCh38]
Chr15:62264961 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2564G>T (p.Gly855Val) single nucleotide variant not provided [RCV002933175] Chr15:61973507 [GRCh38]
Chr15:62265706 [GRCh37]
Chr15:15q22.2		 likely benign|uncertain significance
NM_020821.3(VPS13C):c.7884A>G (p.Pro2628=) single nucleotide variant not provided [RCV002627117] Chr15:61917512 [GRCh38]
Chr15:62209711 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5689C>G (p.Gln1897Glu) single nucleotide variant not provided [RCV002741657] Chr15:61936663 [GRCh38]
Chr15:62228862 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6610-16G>T single nucleotide variant not provided [RCV002829544] Chr15:61922778 [GRCh38]
Chr15:62214977 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6539_6542del (p.Phe2180fs) microsatellite not provided [RCV002741431] Chr15:61925523..61925526 [GRCh38]
Chr15:62217722..62217725 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6522G>C (p.Leu2174Phe) single nucleotide variant not provided [RCV002700317] Chr15:61925543 [GRCh38]
Chr15:62217742 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1106A>G (p.Asn369Ser) single nucleotide variant not provided [RCV002667829] Chr15:62008667 [GRCh38]
Chr15:62300866 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.11229A>C (p.Ser3743=) single nucleotide variant not provided [RCV002894808] Chr15:61854490 [GRCh38]
Chr15:62146689 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7212+16_7212+19del deletion not provided [RCV002710866] Chr15:61920479..61920482 [GRCh38]
Chr15:62212678..62212681 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8742G>A (p.Leu2914=) single nucleotide variant not provided [RCV002643982] Chr15:61910279 [GRCh38]
Chr15:62202478 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7260C>T (p.Asp2420=) single nucleotide variant not provided [RCV002982637] Chr15:61920284 [GRCh38]
Chr15:62212483 [GRCh37]
Chr15:15q22.2		 benign|likely benign
NM_020821.3(VPS13C):c.10820G>A (p.Arg3607His) single nucleotide variant not provided [RCV002932978] Chr15:61868702 [GRCh38]
Chr15:62160901 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7035G>A (p.Gly2345=) single nucleotide variant not provided [RCV002853098] Chr15:61921974 [GRCh38]
Chr15:62214173 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.955A>C (p.Lys319Gln) single nucleotide variant Inborn genetic diseases [RCV002805188] Chr15:62010528 [GRCh38]
Chr15:62302727 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1610T>C (p.Val537Ala) single nucleotide variant not provided [RCV003083093] Chr15:61984968 [GRCh38]
Chr15:62277167 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9167A>G (p.Asp3056Gly) single nucleotide variant not provided [RCV002957679] Chr15:61890339 [GRCh38]
Chr15:62182538 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1826A>T (p.Lys609Ile) single nucleotide variant not provided [RCV002957347] Chr15:61983908 [GRCh38]
Chr15:62276107 [GRCh37]
Chr15:15q22.2		 likely benign|uncertain significance
NM_020821.3(VPS13C):c.615_617del (p.Tyr205_Glu206delinsTer) deletion not provided [RCV002852382] Chr15:62023418..62023420 [GRCh38]
Chr15:62315617..62315619 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10438C>T (p.Arg3480Ter) single nucleotide variant not provided [RCV003085128] Chr15:61873386 [GRCh38]
Chr15:62165585 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4791T>C (p.Phe1597=) single nucleotide variant not provided [RCV002701465] Chr15:61947278 [GRCh38]
Chr15:62239477 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2705A>G (p.Glu902Gly) single nucleotide variant not provided [RCV003007844] Chr15:61972677 [GRCh38]
Chr15:62264876 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4537-10C>T single nucleotide variant not provided [RCV002805298] Chr15:61950427 [GRCh38]
Chr15:62242626 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6782C>T (p.Thr2261Met) single nucleotide variant Inborn genetic diseases [RCV004070768]|not provided [RCV002624378] Chr15:61922590 [GRCh38]
Chr15:62214789 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6243T>A (p.Ile2081=) single nucleotide variant not provided [RCV003088630] Chr15:61929544 [GRCh38]
Chr15:62221743 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5703G>C (p.Glu1901Asp) single nucleotide variant Inborn genetic diseases [RCV002648569]|not provided [RCV004790404] Chr15:61936649 [GRCh38]
Chr15:62228848 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.698A>T (p.His233Leu) single nucleotide variant not provided [RCV002631587] Chr15:62013979 [GRCh38]
Chr15:62306178 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7561A>G (p.Ser2521Gly) single nucleotide variant not provided [RCV002650719] Chr15:61919366 [GRCh38]
Chr15:62211565 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8844+18A>T single nucleotide variant not provided [RCV002647133] Chr15:61910159 [GRCh38]
Chr15:62202358 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1291-17G>A single nucleotide variant not provided [RCV002631345] Chr15:62000643 [GRCh38]
Chr15:62292842 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.4268T>C (p.Ile1423Thr) single nucleotide variant not provided [RCV003009489] Chr15:61954452 [GRCh38]
Chr15:62246651 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10863+16C>T single nucleotide variant not provided [RCV002632151] Chr15:61868643 [GRCh38]
Chr15:62160842 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6293C>T (p.Ser2098Phe) single nucleotide variant not provided [RCV002602380] Chr15:61927314 [GRCh38]
Chr15:62219513 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8924C>T (p.Ala2975Val) single nucleotide variant not provided [RCV002646798] Chr15:61909046 [GRCh38]
Chr15:62201245 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.284-9T>A single nucleotide variant not provided [RCV002647361] Chr15:62033551 [GRCh38]
Chr15:62325750 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6060C>T (p.Asp2020=) single nucleotide variant not provided [RCV003091653] Chr15:61929727 [GRCh38]
Chr15:62221926 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9824G>T (p.Gly3275Val) single nucleotide variant not provided [RCV002720497] Chr15:61880907 [GRCh38]
Chr15:62173106 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4300-17C>T single nucleotide variant not provided [RCV002899975] Chr15:61951997 [GRCh38]
Chr15:62244196 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4375A>G (p.Met1459Val) single nucleotide variant Inborn genetic diseases [RCV002938168]|not provided [RCV002938167] Chr15:61951905 [GRCh38]
Chr15:62244104 [GRCh37]
Chr15:15q22.2		 likely benign|uncertain significance
NM_020821.3(VPS13C):c.3951G>T (p.Leu1317=) single nucleotide variant not provided [RCV002576690] Chr15:61959553 [GRCh38]
Chr15:62251752 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10339-11T>C single nucleotide variant not provided [RCV002715121] Chr15:61874962 [GRCh38]
Chr15:62167161 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3145A>T (p.Ser1049Cys) single nucleotide variant not provided [RCV002716212] Chr15:61964768 [GRCh38]
Chr15:62256967 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3908+12_3908+13insAGGTATGCTCTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGGCTCACTGCAAGCTCCTCTTCCAGGGTTCACGCCATTCTCATTCCTCAGCCTAACGAGTATC insertion not provided [RCV003046511] Chr15:61961576..61961577 [GRCh38]
Chr15:62253775..62253776 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7706G>A (p.Arg2569His) single nucleotide variant not provided [RCV002895501] Chr15:61918190 [GRCh38]
Chr15:62210389 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3423A>G (p.Thr1141=) single nucleotide variant not provided [RCV002746320] Chr15:61962761 [GRCh38]
Chr15:62254960 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1273A>G (p.Ile425Val) single nucleotide variant not provided [RCV003027167] Chr15:62007325 [GRCh38]
Chr15:62299524 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8246C>T (p.Thr2749Met) single nucleotide variant Inborn genetic diseases [RCV002936730] Chr15:61915832 [GRCh38]
Chr15:62208031 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2597T>C (p.Leu866Ser) single nucleotide variant not provided [RCV002937130] Chr15:61973474 [GRCh38]
Chr15:62265673 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10758A>G (p.Glu3586=) single nucleotide variant not provided [RCV002963149] Chr15:61868764 [GRCh38]
Chr15:62160963 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8017C>A (p.Arg2673=) single nucleotide variant not provided [RCV002670967] Chr15:61917379 [GRCh38]
Chr15:62209578 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.793A>G (p.Met265Val) single nucleotide variant Inborn genetic diseases [RCV002748567] Chr15:62013071 [GRCh38]
Chr15:62305270 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10749-19dup duplication not provided [RCV002835071] Chr15:61868791..61868792 [GRCh38]
Chr15:62160990..62160991 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1484-12_1484-10del microsatellite not provided [RCV002579373] Chr15:61991104..61991106 [GRCh38]
Chr15:62283303..62283305 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5977G>A (p.Val1993Ile) single nucleotide variant not provided [RCV002671209] Chr15:61931151 [GRCh38]
Chr15:62223350 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3725A>G (p.Asn1242Ser) single nucleotide variant not provided [RCV002898782] Chr15:61961772 [GRCh38]
Chr15:62253971 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10780C>T (p.Leu3594Phe) single nucleotide variant not provided [RCV002895246] Chr15:61868742 [GRCh38]
Chr15:62160941 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.333dup (p.Gln112fs) duplication not provided [RCV002899623] Chr15:62033492..62033493 [GRCh38]
Chr15:62325691..62325692 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5134T>C (p.Phe1712Leu) single nucleotide variant not provided [RCV002715886] Chr15:61945729 [GRCh38]
Chr15:62237928 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5757A>T (p.Glu1919Asp) single nucleotide variant not provided [RCV002746283] Chr15:61934330 [GRCh38]
Chr15:62226529 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1528A>T (p.Thr510Ser) single nucleotide variant Inborn genetic diseases [RCV002936770] Chr15:61991050 [GRCh38]
Chr15:62283249 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10898G>A (p.Arg3633Gln) single nucleotide variant not provided [RCV003063605] Chr15:61863494 [GRCh38]
Chr15:62155693 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10017G>C (p.Leu3339Phe) single nucleotide variant not provided [RCV003045191] Chr15:61878732 [GRCh38]
Chr15:62170931 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2166+14C>T single nucleotide variant not provided [RCV002631877] Chr15:61981328 [GRCh38]
Chr15:62273527 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8446-17_8446-16insA insertion not provided [RCV003046262] Chr15:61913431..61913432 [GRCh38]
Chr15:62205630..62205631 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8602C>G (p.Leu2868Val) single nucleotide variant not provided [RCV003086528] Chr15:61911953 [GRCh38]
Chr15:62204152 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7723C>T (p.Pro2575Ser) single nucleotide variant not provided [RCV002717248] Chr15:61918173 [GRCh38]
Chr15:62210372 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4165+7G>C single nucleotide variant not provided [RCV003027823] Chr15:61958601 [GRCh38]
Chr15:62250800 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5116_5119del (p.Val1706fs) deletion not provided [RCV003047363] Chr15:61945744..61945747 [GRCh38]
Chr15:62237943..62237946 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9658G>A (p.Val3220Ile) single nucleotide variant not provided [RCV002716580] Chr15:61881795 [GRCh38]
Chr15:62173994 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5965A>G (p.Met1989Val) single nucleotide variant not provided [RCV003062937] Chr15:61931163 [GRCh38]
Chr15:62223362 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7045T>C (p.Trp2349Arg) single nucleotide variant not provided [RCV003009340] Chr15:61921964 [GRCh38]
Chr15:62214163 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3967T>G (p.Leu1323Val) single nucleotide variant Inborn genetic diseases [RCV002669625] Chr15:61959537 [GRCh38]
Chr15:62251736 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9818A>G (p.Asp3273Gly) single nucleotide variant not provided [RCV003061835] Chr15:61880913 [GRCh38]
Chr15:62173112 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5079C>T (p.Asp1693=) single nucleotide variant not provided [RCV002966980] Chr15:61945784 [GRCh38]
Chr15:62237983 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10527G>A (p.Gln3509=) single nucleotide variant not provided [RCV002856171] Chr15:61873297 [GRCh38]
Chr15:62165496 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8446-10T>C single nucleotide variant not provided [RCV003010292] Chr15:61913425 [GRCh38]
Chr15:62205624 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9341+8A>C single nucleotide variant not provided [RCV002811399] Chr15:61890157 [GRCh38]
Chr15:62182356 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6181G>A (p.Ala2061Thr) single nucleotide variant not provided [RCV002967058] Chr15:61929606 [GRCh38]
Chr15:62221805 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8811_8844+12dup duplication not provided [RCV002670807] Chr15:61910164..61910165 [GRCh38]
Chr15:62202363..62202364 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4516C>A (p.Leu1506Met) single nucleotide variant not provided [RCV003028833] Chr15:61950965 [GRCh38]
Chr15:62243164 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2823G>T (p.Gln941His) single nucleotide variant not provided [RCV002770534] Chr15:61969387 [GRCh38]
Chr15:62261586 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7720A>G (p.Arg2574Gly) single nucleotide variant not provided [RCV003049051] Chr15:61918176 [GRCh38]
Chr15:62210375 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8716-9T>C single nucleotide variant not provided [RCV003048584] Chr15:61910314 [GRCh38]
Chr15:62202513 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1693T>A (p.Ser565Thr) single nucleotide variant not provided [RCV002933983] Chr15:61984885 [GRCh38]
Chr15:62277084 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1176G>A (p.Met392Ile) single nucleotide variant Inborn genetic diseases [RCV002961797] Chr15:62007422 [GRCh38]
Chr15:62299621 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.947A>G (p.Lys316Arg) single nucleotide variant not provided [RCV003062832] Chr15:62010536 [GRCh38]
Chr15:62302735 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3436-3C>T single nucleotide variant not provided [RCV003068831] Chr15:61962541 [GRCh38]
Chr15:62254740 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6634G>A (p.Val2212Met) single nucleotide variant not provided [RCV002584250] Chr15:61922738 [GRCh38]
Chr15:62214937 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10029C>T (p.Ser3343=) single nucleotide variant VPS13C-related disorder [RCV003953959]|not provided [RCV002634048] Chr15:61878720 [GRCh38]
Chr15:62170919 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4856T>C (p.Ile1619Thr) single nucleotide variant not provided [RCV003052710] Chr15:61947213 [GRCh38]
Chr15:62239412 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9695C>G (p.Ala3232Gly) single nucleotide variant not provided [RCV003092747] Chr15:61881758 [GRCh38]
Chr15:62173957 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3233A>G (p.Asp1078Gly) single nucleotide variant not provided [RCV002635693] Chr15:61963933 [GRCh38]
Chr15:62256132 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1114C>T (p.Arg372Ter) single nucleotide variant not provided [RCV002653290] Chr15:62008659 [GRCh38]
Chr15:62300858 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.685-9T>C single nucleotide variant not provided [RCV002680811] Chr15:62014001 [GRCh38]
Chr15:62306200 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4704G>T (p.Lys1568Asn) single nucleotide variant not provided [RCV003049570] Chr15:61949498 [GRCh38]
Chr15:62241697 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6610-11C>A single nucleotide variant not provided [RCV002585746] Chr15:61922773 [GRCh38]
Chr15:62214972 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.769G>A (p.Ala257Thr) single nucleotide variant not provided [RCV002606721] Chr15:62013095 [GRCh38]
Chr15:62305294 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6035C>T (p.Ser2012Leu) single nucleotide variant not provided [RCV002610361] Chr15:61931093 [GRCh38]
Chr15:62223292 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.385+8G>A single nucleotide variant not provided [RCV002680795] Chr15:62033433 [GRCh38]
Chr15:62325632 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1709C>T (p.Ala570Val) single nucleotide variant not provided [RCV002635735] Chr15:61984869 [GRCh38]
Chr15:62277068 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6286+4A>G single nucleotide variant not provided [RCV002658204] Chr15:61929497 [GRCh38]
Chr15:62221696 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.11076+3A>G single nucleotide variant not provided [RCV002588468] Chr15:61856283 [GRCh38]
Chr15:62148482 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9415G>A (p.Glu3139Lys) single nucleotide variant not provided [RCV002657742] Chr15:61884196 [GRCh38]
Chr15:62176395 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4328A>G (p.Glu1443Gly) single nucleotide variant not provided [RCV002653202] Chr15:61951952 [GRCh38]
Chr15:62244151 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9667C>T (p.His3223Tyr) single nucleotide variant not provided [RCV003071870] Chr15:61881786 [GRCh38]
Chr15:62173985 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9793A>T (p.Ile3265Phe) single nucleotide variant not provided [RCV002654448] Chr15:61880938 [GRCh38]
Chr15:62173137 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1748A>G (p.Tyr583Cys) single nucleotide variant not provided [RCV002607756] Chr15:61983986 [GRCh38]
Chr15:62276185 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7739A>G (p.His2580Arg) single nucleotide variant not provided [RCV002611657] Chr15:61918157 [GRCh38]
Chr15:62210356 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7247A>G (p.Tyr2416Cys) single nucleotide variant not provided [RCV003093058] Chr15:61920297 [GRCh38]
Chr15:62212496 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.11114A>G (p.Gln3705Arg) single nucleotide variant not provided [RCV003072614] Chr15:61854917 [GRCh38]
Chr15:62147116 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6433C>T (p.Gln2145Ter) single nucleotide variant not provided [RCV002721391] Chr15:61927174 [GRCh38]
Chr15:62219373 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1193_1194del (p.Ile398fs) deletion Autosomal recessive early-onset Parkinson disease 23 [RCV003131878] Chr15:62007404..62007405 [GRCh38]
Chr15:62299603..62299604 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.751C>T (p.Arg251Ter) single nucleotide variant not provided [RCV003222826] Chr15:62013113 [GRCh38]
Chr15:62305312 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.4326A>C (p.Ser1442=) single nucleotide variant not provided [RCV003222825] Chr15:61951954 [GRCh38]
Chr15:62244153 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5971G>A (p.Val1991Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003139288] Chr15:61931157 [GRCh38]
Chr15:62223356 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10863+1553C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003139289] Chr15:61867106 [GRCh38]
Chr15:62159305 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3329A>G (p.Gln1110Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003139290] Chr15:61963837 [GRCh38]
Chr15:62256036 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10576C>T (p.Arg3526Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003337804] Chr15:61873248 [GRCh38]
Chr15:62165447 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.5386G>C (p.Glu1796Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003340926] Chr15:61941830 [GRCh38]
Chr15:62234029 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8490A>T (p.Ser2830=) single nucleotide variant not provided [RCV003394893] Chr15:61913371 [GRCh38]
Chr15:62205570 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1330G>C (p.Ala444Pro) single nucleotide variant not provided [RCV003394897] Chr15:62000587 [GRCh38]
Chr15:62292786 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10232A>T (p.Lys3411Ile) single nucleotide variant not provided [RCV003394892] Chr15:61875838 [GRCh38]
Chr15:62168037 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9244C>T (p.Gln3082Ter) single nucleotide variant not provided [RCV003481846] Chr15:61890262 [GRCh38]
Chr15:62182461 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.1009C>G (p.Gln337Glu) single nucleotide variant not provided [RCV003779284]|not specified [RCV003489749] Chr15:62010474 [GRCh38]
Chr15:62302673 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3709T>G (p.Phe1237Val) single nucleotide variant not specified [RCV003479960] Chr15:61961788 [GRCh38]
Chr15:62253987 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8988A>G (p.Pro2996=) single nucleotide variant not specified [RCV003479961] Chr15:61907381 [GRCh38]
Chr15:62199580 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6357C>G (p.Ser2119Arg) single nucleotide variant not provided [RCV003394894] Chr15:61927250 [GRCh38]
Chr15:62219449 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.826-1G>A single nucleotide variant VPS13C-related disorder [RCV003420817] Chr15:62012165 [GRCh38]
Chr15:62304364 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.5490T>G (p.Ile1830Met) single nucleotide variant not provided [RCV003480133] Chr15:61940758 [GRCh38]
Chr15:62232957 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6922A>G (p.Asn2308Asp) single nucleotide variant not provided [RCV003480131] Chr15:61922450 [GRCh38]
Chr15:62214649 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6010A>C (p.Arg2004=) single nucleotide variant not provided [RCV003394895] Chr15:61931118 [GRCh38]
Chr15:62223317 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1842C>T (p.Thr614=) single nucleotide variant not provided [RCV003390507] Chr15:61983892 [GRCh38]
Chr15:62276091 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7378C>T (p.Gln2460Ter) single nucleotide variant VPS13C-related disorder [RCV003408596] Chr15:61920166 [GRCh38]
Chr15:62212365 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.3297C>T (p.Asn1099=) single nucleotide variant not provided [RCV003390506] Chr15:61963869 [GRCh38]
Chr15:62256068 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5993G>A (p.Cys1998Tyr) single nucleotide variant not provided [RCV003394896] Chr15:61931135 [GRCh38]
Chr15:62223334 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9366del (p.Lys3122fs) deletion not provided [RCV003441406] Chr15:61884245 [GRCh38]
Chr15:62176444 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.1915-10T>C single nucleotide variant not provided [RCV003693700] Chr15:61982583 [GRCh38]
Chr15:62274782 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2181T>C (p.Asp727=) single nucleotide variant not provided [RCV003660644] Chr15:61978735 [GRCh38]
Chr15:62270934 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10851T>G (p.Ser3617=) single nucleotide variant not provided [RCV003663357] Chr15:61868671 [GRCh38]
Chr15:62160870 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5868+1G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003989148]|not provided [RCV003715471] Chr15:61934218 [GRCh38]
Chr15:62226417 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.3524C>T (p.Ser1175Phe) single nucleotide variant not provided [RCV003879352] Chr15:61962450 [GRCh38]
Chr15:62254649 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1524C>T (p.Leu508=) single nucleotide variant not provided [RCV003713203] Chr15:61991054 [GRCh38]
Chr15:62283253 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6517-15T>C single nucleotide variant not provided [RCV003695716] Chr15:61925563 [GRCh38]
Chr15:62217762 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10111A>C (p.Thr3371Pro) single nucleotide variant not provided [RCV003829170] Chr15:61878638 [GRCh38]
Chr15:62170837 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4596+12A>G single nucleotide variant not provided [RCV003713162] Chr15:61950346 [GRCh38]
Chr15:62242545 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9481G>T (p.Glu3161Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003493249] Chr15:61884130 [GRCh38]
Chr15:62176329 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.2196G>A (p.Lys732=) single nucleotide variant not provided [RCV003547758] Chr15:61978720 [GRCh38]
Chr15:62270919 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4429dup (p.Ile1477fs) duplication not provided [RCV003714153] Chr15:61951850..61951851 [GRCh38]
Chr15:62244049..62244050 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.540T>C (p.Asp180=) single nucleotide variant not provided [RCV003849380] Chr15:62023495 [GRCh38]
Chr15:62315694 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6039-18T>C single nucleotide variant not provided [RCV003849391] Chr15:61929766 [GRCh38]
Chr15:62221965 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8268C>T (p.His2756=) single nucleotide variant not provided [RCV003697042] Chr15:61915810 [GRCh38]
Chr15:62208009 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10756G>T (p.Glu3586Ter) single nucleotide variant not provided [RCV003698080] Chr15:61868766 [GRCh38]
Chr15:62160965 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.3436-18C>G single nucleotide variant not provided [RCV003665641] Chr15:61962556 [GRCh38]
Chr15:62254755 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9769C>T (p.Gln3257Ter) single nucleotide variant not provided [RCV003850219] Chr15:61881570 [GRCh38]
Chr15:62173769 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.8625A>G (p.Ala2875=) single nucleotide variant not provided [RCV003725782] Chr15:61911930 [GRCh38]
Chr15:62204129 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8637A>G (p.Ser2879=) single nucleotide variant not provided [RCV003810771] Chr15:61911918 [GRCh38]
Chr15:62204117 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5787T>C (p.Ser1929=) single nucleotide variant not provided [RCV003550081] Chr15:61934300 [GRCh38]
Chr15:62226499 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4567A>G (p.Ile1523Val) single nucleotide variant not provided [RCV003561431] Chr15:61950387 [GRCh38]
Chr15:62242586 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10748+10T>C single nucleotide variant not provided [RCV003856307] Chr15:61869490 [GRCh38]
Chr15:62161689 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8057G>T (p.Gly2686Val) single nucleotide variant not provided [RCV003673776] Chr15:61916021 [GRCh38]
Chr15:62208220 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5811A>G (p.Gln1937=) single nucleotide variant not provided [RCV003856306] Chr15:61934276 [GRCh38]
Chr15:62226475 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4104A>G (p.Thr1368=) single nucleotide variant not provided [RCV003580430] Chr15:61958669 [GRCh38]
Chr15:62250868 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3951G>C (p.Leu1317=) single nucleotide variant not provided [RCV003664769] Chr15:61959553 [GRCh38]
Chr15:62251752 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7488A>T (p.Gly2496=) single nucleotide variant not provided [RCV003856151] Chr15:61919439 [GRCh38]
Chr15:62211638 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3666A>C (p.Ala1222=) single nucleotide variant not provided [RCV003668493] Chr15:61961831 [GRCh38]
Chr15:62254030 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1483+8C>T single nucleotide variant not provided [RCV003669457] Chr15:61991665 [GRCh38]
Chr15:62283864 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9483+17T>G single nucleotide variant not provided [RCV003816895] Chr15:61884111 [GRCh38]
Chr15:62176310 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.464del (p.Lys155fs) deletion not provided [RCV003561641] Chr15:62023830 [GRCh38]
Chr15:62316029 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.10338G>A (p.Gln3446=) single nucleotide variant not provided [RCV003668538] Chr15:61875732 [GRCh38]
Chr15:62167931 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1956G>A (p.Lys652=) single nucleotide variant not provided [RCV003817034] Chr15:61982532 [GRCh38]
Chr15:62274731 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6429C>G (p.Leu2143=) single nucleotide variant not provided [RCV003724491] Chr15:61927178 [GRCh38]
Chr15:62219377 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.9126A>G (p.Pro3042=) single nucleotide variant not provided [RCV003703270] Chr15:61890380 [GRCh38]
Chr15:62182579 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6885T>C (p.Thr2295=) single nucleotide variant not provided [RCV003726606] Chr15:61922487 [GRCh38]
Chr15:62214686 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4152A>G (p.Arg1384=) single nucleotide variant not provided [RCV003667536] Chr15:61958621 [GRCh38]
Chr15:62250820 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.2166+15G>A single nucleotide variant not provided [RCV003854532] Chr15:61981327 [GRCh38]
Chr15:62273526 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1290+16A>G single nucleotide variant not provided [RCV003849522] Chr15:62007292 [GRCh38]
Chr15:62299491 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.11196G>A (p.Thr3732=) single nucleotide variant not provided [RCV003672022] Chr15:61854523 [GRCh38]
Chr15:62146722 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7329A>G (p.Arg2443=) single nucleotide variant not provided [RCV003849396] Chr15:61920215 [GRCh38]
Chr15:62212414 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9165G>T (p.Leu3055=) single nucleotide variant not provided [RCV003580196] Chr15:61890341 [GRCh38]
Chr15:62182540 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10095G>A (p.Leu3365=) single nucleotide variant not provided [RCV003672452] Chr15:61878654 [GRCh38]
Chr15:62170853 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8030C>T (p.Pro2677Leu) single nucleotide variant not provided [RCV003725180] Chr15:61917366 [GRCh38]
Chr15:62209565 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1290+20G>A single nucleotide variant not provided [RCV003856906] Chr15:62007288 [GRCh38]
Chr15:62299487 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1408C>T (p.Arg470Cys) single nucleotide variant not provided [RCV003670668] Chr15:61991748 [GRCh38]
Chr15:62283947 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1915-12dup duplication not provided [RCV003846157] Chr15:61982584..61982585 [GRCh38]
Chr15:62274783..62274784 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.5415T>C (p.Asp1805=) single nucleotide variant not provided [RCV003866285] Chr15:61941801 [GRCh38]
Chr15:62234000 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9484-17_9484-16del deletion not provided [RCV003845750] Chr15:61882752..61882753 [GRCh38]
Chr15:62174951..62174952 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.1484-6dup duplication not provided [RCV003858864] Chr15:61991099..61991100 [GRCh38]
Chr15:62283298..62283299 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.10624+15T>C single nucleotide variant not provided [RCV003843928] Chr15:61871974 [GRCh38]
Chr15:62164173 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9175C>T (p.Gln3059Ter) single nucleotide variant not provided [RCV003846037] Chr15:61890331 [GRCh38]
Chr15:62182530 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.4876+12C>T single nucleotide variant not provided [RCV003841516] Chr15:61947181 [GRCh38]
Chr15:62239380 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1011+11T>C single nucleotide variant not provided [RCV003844391] Chr15:62010461 [GRCh38]
Chr15:62302660 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.11147C>A (p.Thr3716Asn) single nucleotide variant not provided [RCV003844600] Chr15:61854884 [GRCh38]
Chr15:62147083 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.448+13G>C single nucleotide variant not provided [RCV003847187] Chr15:62028345 [GRCh38]
Chr15:62320544 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3675T>G (p.Ala1225=) single nucleotide variant not provided [RCV003680411] Chr15:61961822 [GRCh38]
Chr15:62254021 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.744+20A>C single nucleotide variant not provided [RCV003845941] Chr15:62013913 [GRCh38]
Chr15:62306112 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10219G>T (p.Glu3407Ter) single nucleotide variant not provided [RCV003861155] Chr15:61876978 [GRCh38]
Chr15:62169177 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.7639-10del deletion not provided [RCV003565003] Chr15:61918267 [GRCh38]
Chr15:62210466 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.192del (p.Lys64fs) deletion not provided [RCV003859983] Chr15:62035048 [GRCh38]
Chr15:62327247 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.4596+8T>G single nucleotide variant not provided [RCV003867943] Chr15:61950350 [GRCh38]
Chr15:62242549 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4344T>G (p.Pro1448=) single nucleotide variant not provided [RCV003721169] Chr15:61951936 [GRCh38]
Chr15:62244135 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.837A>G (p.Lys279=) single nucleotide variant not provided [RCV003720150] Chr15:62012153 [GRCh38]
Chr15:62304352 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.390A>G (p.Thr130=) single nucleotide variant not provided [RCV003720163] Chr15:62028416 [GRCh38]
Chr15:62320615 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8551-12T>G single nucleotide variant not provided [RCV003564419] Chr15:61912016 [GRCh38]
Chr15:62204215 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6537A>C (p.Leu2179Phe) single nucleotide variant not provided [RCV003844598] Chr15:61925528 [GRCh38]
Chr15:62217727 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4887C>G (p.Ala1629=) single nucleotide variant not provided [RCV003858027] Chr15:61946400 [GRCh38]
Chr15:62238599 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.514+19A>G single nucleotide variant not provided [RCV003853360] Chr15:62023761 [GRCh38]
Chr15:62315960 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8781A>G (p.Gly2927=) single nucleotide variant not provided [RCV003733769] Chr15:61910240 [GRCh38]
Chr15:62202439 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7639-10T>C single nucleotide variant not provided [RCV003842440] Chr15:61918267 [GRCh38]
Chr15:62210466 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1011+12G>A single nucleotide variant not provided [RCV003710779] Chr15:62010460 [GRCh38]
Chr15:62302659 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1579-15A>G single nucleotide variant not provided [RCV003845981] Chr15:61985014 [GRCh38]
Chr15:62277213 [GRCh37]
Chr15:15q22.2		 benign
NM_020821.3(VPS13C):c.188-16A>C single nucleotide variant not provided [RCV003845520] Chr15:62035068 [GRCh38]
Chr15:62327267 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.188-6C>T single nucleotide variant not provided [RCV003553860] Chr15:62035058 [GRCh38]
Chr15:62327257 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3678C>A (p.Ala1226=) single nucleotide variant not provided [RCV003732277] Chr15:61961819 [GRCh38]
Chr15:62254018 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9111A>G (p.Gly3037=) single nucleotide variant not provided [RCV003703891] Chr15:61890395 [GRCh38]
Chr15:62182594 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.936A>G (p.Glu312=) single nucleotide variant not provided [RCV003674652] Chr15:62010547 [GRCh38]
Chr15:62302746 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8112G>A (p.Ser2704=) single nucleotide variant not provided [RCV003676874] Chr15:61915966 [GRCh38]
Chr15:62208165 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6404A>C (p.Asn2135Thr) single nucleotide variant VPS13C-related disorder [RCV004750941]|not provided [RCV003853591] Chr15:61927203 [GRCh38]
Chr15:62219402 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.386G>A (p.Gly129Asp) single nucleotide variant VPS13C-related disorder [RCV004750942]|not provided [RCV003853592] Chr15:62028420 [GRCh38]
Chr15:62320619 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.10523G>C (p.Arg3508Pro) single nucleotide variant not provided [RCV003566239] Chr15:61873301 [GRCh38]
Chr15:62165500 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8017C>T (p.Arg2673Trp) single nucleotide variant not provided [RCV003857145] Chr15:61917379 [GRCh38]
Chr15:62209578 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4876+8G>A single nucleotide variant not provided [RCV003554643] Chr15:61947185 [GRCh38]
Chr15:62239384 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3331+18A>G single nucleotide variant not provided [RCV003866202] Chr15:61963817 [GRCh38]
Chr15:62256016 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8325C>T (p.Ile2775=) single nucleotide variant not provided [RCV003712493] Chr15:61915753 [GRCh38]
Chr15:62207952 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4537-19A>G single nucleotide variant not provided [RCV003541838] Chr15:61950436 [GRCh38]
Chr15:62242635 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1600C>A (p.Leu534Met) single nucleotide variant not provided [RCV003676628] Chr15:61984978 [GRCh38]
Chr15:62277177 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1875G>C (p.Leu625=) single nucleotide variant VPS13C-related disorder [RCV003907334] Chr15:61983859 [GRCh38]
Chr15:62276058 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8061A>C (p.Thr2687=) single nucleotide variant VPS13C-related disorder [RCV003917072] Chr15:61916017 [GRCh38]
Chr15:62208216 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10414+1G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003991764] Chr15:61874875 [GRCh38]
Chr15:62167074 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.9369A>G (p.Pro3123=) single nucleotide variant not provided [RCV003886090] Chr15:61884242 [GRCh38]
Chr15:62176441 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.1118+9G>T single nucleotide variant VPS13C-related disorder [RCV003974760] Chr15:62008646 [GRCh38]
Chr15:62300845 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5756-1G>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003990346] Chr15:61934332 [GRCh38]
Chr15:62226531 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.9019C>T (p.Arg3007Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV003989205] Chr15:61907350 [GRCh38]
Chr15:62199549 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.6552T>C (p.Cys2184=) single nucleotide variant VPS13C-related disorder [RCV003974231] Chr15:61925513 [GRCh38]
Chr15:62217712 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10414+6T>G single nucleotide variant VPS13C-related disorder [RCV003961477] Chr15:61874870 [GRCh38]
Chr15:62167069 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.8340G>T (p.Arg2780=) single nucleotide variant VPS13C-related disorder [RCV003966956] Chr15:61915738 [GRCh38]
Chr15:62207937 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9889-3C>T single nucleotide variant VPS13C-related disorder [RCV003907111] Chr15:61880725 [GRCh38]
Chr15:62172924 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6972A>G (p.Leu2324=) single nucleotide variant VPS13C-related disorder [RCV003894694] Chr15:61922400 [GRCh38]
Chr15:62214599 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9555A>T (p.Ser3185=) single nucleotide variant VPS13C-related disorder [RCV003957320] Chr15:61882665 [GRCh38]
Chr15:62174864 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7311G>A (p.Lys2437=) single nucleotide variant VPS13C-related disorder [RCV003904116] Chr15:61920233 [GRCh38]
Chr15:62212432 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.6147T>C (p.Tyr2049=) single nucleotide variant not provided [RCV003886064] Chr15:61929640 [GRCh38]
Chr15:62221839 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3106A>G (p.Ile1036Val) single nucleotide variant VPS13C-related disorder [RCV003904374] Chr15:61964807 [GRCh38]
Chr15:62257006 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8080G>A (p.Ala2694Thr) single nucleotide variant VPS13C-related disorder [RCV003904535] Chr15:61915998 [GRCh38]
Chr15:62208197 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2550T>A (p.Ile850=) single nucleotide variant VPS13C-related disorder [RCV003914045] Chr15:61973521 [GRCh38]
Chr15:62265720 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9105+8T>C single nucleotide variant VPS13C-related disorder [RCV003954861] Chr15:61907256 [GRCh38]
Chr15:62199455 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.5597T>C (p.Met1866Thr) single nucleotide variant not provided [RCV003884039] Chr15:61940651 [GRCh38]
Chr15:62232850 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.8160C>A (p.Gly2720=) single nucleotide variant VPS13C-related disorder [RCV003949626] Chr15:61915918 [GRCh38]
Chr15:62208117 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.9707-5C>T single nucleotide variant VPS13C-related disorder [RCV003947142] Chr15:61881637 [GRCh38]
Chr15:62173836 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.3331G>T (p.Gly1111Ter) single nucleotide variant Young-onset Parkinson disease [RCV004018080] Chr15:61963835 [GRCh38]
Chr15:62256034 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.5462T>A (p.Leu1821Ter) single nucleotide variant Young-onset Parkinson disease [RCV004018081] Chr15:61940786 [GRCh38]
Chr15:62232985 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.5698C>T (p.Gln1900Ter) single nucleotide variant Young-onset Parkinson disease [RCV004018132] Chr15:61936654 [GRCh38]
Chr15:62228853 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.8315A>G (p.Tyr2772Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV004547398] Chr15:61915763 [GRCh38]
Chr15:62207962 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.7531C>T (p.Arg2511Ter) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004558044] Chr15:61919396 [GRCh38]
Chr15:62211595 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7721G>A (p.Arg2574Lys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV004566549] Chr15:61918175 [GRCh38]
Chr15:62210374 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3849C>A (p.Tyr1283Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV004566648] Chr15:61961648 [GRCh38]
Chr15:62253847 [GRCh37]
Chr15:15q22.2		 pathogenic
NM_020821.3(VPS13C):c.3908+2T>C single nucleotide variant Young-onset Parkinson disease [RCV004018078] Chr15:61961587 [GRCh38]
Chr15:62253786 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.2408+1G>A single nucleotide variant VPS13C-related disorder [RCV004750954]|Young-onset Parkinson disease [RCV004018079] Chr15:61977081 [GRCh38]
Chr15:62269280 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NC_000015.9:g.(?_62244003)_(63358098_?)dup duplication Hypertrophic cardiomyopathy [RCV004582927] Chr15:62244003..63358098 [GRCh37]
Chr15:15q22.2		 uncertain significance
NC_000015.9:g.(?_62212246)_(62352573_?)dup duplication not provided [RCV004583134] Chr15:62212246..62352573 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5169A>G (p.Gln1723=) single nucleotide variant not provided [RCV004809429] Chr15:61942047 [GRCh38]
Chr15:62234246 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.4380A>G (p.Glu1460=) single nucleotide variant not provided [RCV004810509] Chr15:61951900 [GRCh38]
Chr15:62244099 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.7739_7745del (p.His2580fs) deletion not provided [RCV004792287] Chr15:61918151..61918157 [GRCh38]
Chr15:62210350..62210356 [GRCh37]
Chr15:15q22.2		 likely pathogenic
NM_020821.3(VPS13C):c.9494A>G (p.Asp3165Gly) single nucleotide variant not provided [RCV004794089] Chr15:61882726 [GRCh38]
Chr15:62174925 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6857C>G (p.Thr2286Ser) single nucleotide variant not provided [RCV004794090] Chr15:61922515 [GRCh38]
Chr15:62214714 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6833T>G (p.Val2278Gly) single nucleotide variant not provided [RCV004794091] Chr15:61922539 [GRCh38]
Chr15:62214738 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6593A>C (p.Lys2198Thr) single nucleotide variant not provided [RCV004794092] Chr15:61925472 [GRCh38]
Chr15:62217671 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.6324G>T (p.Met2108Ile) single nucleotide variant not provided [RCV004794093] Chr15:61927283 [GRCh38]
Chr15:62219482 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5600A>G (p.Gln1867Arg) single nucleotide variant not provided [RCV004794094] Chr15:61940648 [GRCh38]
Chr15:62232847 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1296G>A (p.Leu432=) single nucleotide variant not provided [RCV004794096] Chr15:62000621 [GRCh38]
Chr15:62292820 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1043T>C (p.Val348Ala) single nucleotide variant not provided [RCV004794097] Chr15:62008730 [GRCh38]
Chr15:62300929 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.1790T>C (p.Val597Ala) single nucleotide variant not provided [RCV004794095] Chr15:61983944 [GRCh38]
Chr15:62276143 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3298G>A (p.Glu1100Lys) single nucleotide variant not provided [RCV004810283] Chr15:61963868 [GRCh38]
Chr15:62256067 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2283A>T (p.Ala761=) single nucleotide variant not provided [RCV004810300] Chr15:61978633 [GRCh38]
Chr15:62270832 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.3719C>T (p.Ser1240Phe) single nucleotide variant VPS13C-related disorder [RCV004752506] Chr15:61961778 [GRCh38]
Chr15:62253977 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5843T>A (p.Ile1948Asn) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV004764482] Chr15:61934244 [GRCh38]
Chr15:62226443 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.5406A>G (p.Pro1802=) single nucleotide variant not provided [RCV004727295] Chr15:61941810 [GRCh38]
Chr15:62234009 [GRCh37]
Chr15:15q22.2		 likely benign
NM_020821.3(VPS13C):c.10558G>C (p.Gly3520Arg) single nucleotide variant not provided [RCV004761427]   uncertain significance
NM_020821.3(VPS13C):c.5205G>T (p.Gln1735His) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV004764877] Chr15:61942011 [GRCh38]
Chr15:62234210 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.2122C>T (p.His708Tyr) single nucleotide variant not provided [RCV004811738] Chr15:61981386 [GRCh38]
Chr15:62273585 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4576A>T (p.Ser1526Cys) single nucleotide variant VPS13C-related disorder [RCV004751128] Chr15:61950378 [GRCh38]
Chr15:62242577 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.4480A>G (p.Ile1494Val) single nucleotide variant VPS13C-related disorder [RCV004752500] Chr15:61951001 [GRCh38]
Chr15:62243200 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_020821.3(VPS13C):c.9913G>A (p.Asp3305Asn) single nucleotide variant not provided [RCV004762991]   uncertain significance
NM_020821.3(VPS13C):c.7298C>T (p.Pro2433Leu) single nucleotide variant not provided [RCV004762992]   uncertain significance
NM_020821.3(VPS13C):c.4394C>T (p.Thr1465Ile) single nucleotide variant not provided [RCV004764197]   uncertain significance
NM_020821.3(VPS13C):c.866C>A (p.Pro289His) single nucleotide variant not provided [RCV004729292] Chr15:62012124 [GRCh38]
Chr15:62304323 [GRCh37]
Chr15:15q22.2		 uncertain significance
GRCh37/hg19 15q21.3-22.31(chr15:57544843-64324372)x1 copy number loss not provided [RCV004819382] Chr15:57544843..64324372 [GRCh37]
Chr15:15q21.3-22.31		 pathogenic
GRCh37/hg19 15q22.2(chr15:62239832-63419050)x3 copy number gain not provided [RCV004819617] Chr15:62239832..63419050 [GRCh37]
Chr15:15q22.2		 uncertain significance
GRCh37/hg19 15q21.3-22.2(chr15:58414853-63240164)x1 copy number loss not provided [RCV004819873] Chr15:58414853..63240164 [GRCh37]
Chr15:15q21.3-22.2		 uncertain significance
NM_020821.3(VPS13C):c.9562C>T (p.Gln3188Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 23 [RCV004821007] Chr15:61882658 [GRCh38]
Chr15:62174857 [GRCh37]
Chr15:15q22.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2537
Count of miRNA genes:841
Interacting mature miRNAs:959
Transcripts:ENST00000249837, ENST00000261517, ENST00000395896, ENST00000395898, ENST00000558088, ENST00000558338, ENST00000558919, ENST00000559119, ENST00000560637, ENST00000561258
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
406921920GWAS570896_Hlean body mass QTL GWAS570896 (human)0.000006body lean mass (VT:0010483)total body lean mass (CMO:0003950)156198274161982742Human
597196953GWAS1293027_Hbody height QTL GWAS1293027 (human)8e-16body height (VT:0001253)body height (CMO:0000106)156202009862020099Human
597146515GWAS1242589_Hbody height QTL GWAS1242589 (human)8e-12body height (VT:0001253)body height (CMO:0000106)156191288961912890Human
597048478GWAS1144552_HC-reactive protein measurement QTL GWAS1144552 (human)2e-10C-reactive protein measurementblood C-reactive protein level (CMO:0003160)156199532961995330Human
597309331GWAS1405405_Hvaginal microbiome measurement QTL GWAS1405405 (human)0.0000007vaginal microbiome measurement156202909762029098Human
597074458GWAS1170532_Hbody mass index QTL GWAS1170532 (human)8e-10body mass indexbody mass index (BMI) (CMO:0000105)156202723362027234Human
597347988GWAS1444062_Hlean body mass QTL GWAS1444062 (human)6e-11body lean mass (VT:0010483)total body lean mass (CMO:0003950)156189723361897234Human
597355787GWAS1451861_Hbody height QTL GWAS1451861 (human)2e-44body height (VT:0001253)body height (CMO:0000106)156192058261920583Human
597202570GWAS1298644_Hlean body mass QTL GWAS1298644 (human)4e-13body lean mass (VT:0010483)total body lean mass (CMO:0003950)156196686761966868Human
597059845GWAS1155919_Hmetabolic syndrome QTL GWAS1155919 (human)8e-15metabolic syndrome156202383662023837Human
597134338GWAS1230412_Hbody weight QTL GWAS1230412 (human)3e-14body mass (VT:0001259)body weight (CMO:0000012)156204356462043565Human
597355788GWAS1451862_Hbody height QTL GWAS1451862 (human)1e-29body height (VT:0001253)body height (CMO:0000106)156195191861951919Human
596961795GWAS1081314_Hmetabolic syndrome QTL GWAS1081314 (human)8e-15metabolic syndrome156202383662023837Human
596979468GWAS1098987_Hbody height QTL GWAS1098987 (human)2e-23body height (VT:0001253)body height (CMO:0000106)156203953062039531Human
407026523GWAS675499_Hserum IgG glycosylation measurement QTL GWAS675499 (human)0.000009serum IgG glycosylation measurement156204659862046599Human
597310593GWAS1406667_Hvaginal microbiome measurement QTL GWAS1406667 (human)0.0000004vaginal microbiome measurement156202909762029098Human
597298232GWAS1394306_Hbody height QTL GWAS1394306 (human)2e-23body height (VT:0001253)body height (CMO:0000106)156203953062039531Human
597248698GWAS1344772_Hglucose tolerance test QTL GWAS1344772 (human)3e-14glucose tolerance test156203843462038435Human
597309631GWAS1405705_Hvaginal microbiome measurement QTL GWAS1405705 (human)0.000004vaginal microbiome measurement156202909762029098Human
596967603GWAS1087122_Hbody mass index QTL GWAS1087122 (human)4e-10body mass indexbody mass index (BMI) (CMO:0000105)156202383662023837Human
597287358GWAS1383432_Hbody mass index QTL GWAS1383432 (human)2e-13body mass indexbody mass index (BMI) (CMO:0000105)156205113362051134Human
597334580GWAS1430654_HC-reactive protein measurement QTL GWAS1430654 (human)1e-08C-reactive protein measurementblood C-reactive protein level (CMO:0003160)156203227262032273Human
597618606GWAS1675466_Hbody weight QTL GWAS1675466 (human)1e-12body mass (VT:0001259)body weight (CMO:0000012)156200740462007405Human
597609007GWAS1665867_Hbody weight QTL GWAS1665867 (human)4e-18body mass (VT:0001259)body weight (CMO:0000012)156199849361998494Human
597621167GWAS1678027_Hbody weight QTL GWAS1678027 (human)8e-12body mass (VT:0001259)body weight (CMO:0000012)156199849361998494Human
597612332GWAS1669192_Hbody weight QTL GWAS1669192 (human)5e-19body mass (VT:0001259)body weight (CMO:0000012)156199849361998494Human
597326632GWAS1422706_Hglucose measurement QTL GWAS1422706 (human)2e-17glucose measurementblood glucose level (CMO:0000046)156201725062017251Human
597037742GWAS1133816_Hinsular cortex volume measurement QTL GWAS1133816 (human)0.000004cerebral cortex morphology trait (VT:0000788)156189723361897234Human
597166626GWAS1262700_Hbody weight QTL GWAS1262700 (human)3e-14body mass (VT:0001259)body weight (CMO:0000012)156193448961934490Human
597284386GWAS1380460_Hglucose measurement QTL GWAS1380460 (human)1e-12glucose measurementblood glucose level (CMO:0000046)156203725162037252Human
597177937GWAS1274011_Hbody mass index QTL GWAS1274011 (human)9e-16body mass indexbody mass index (BMI) (CMO:0000105)156202383662023837Human
597310803GWAS1406877_Hvaginal microbiome measurement QTL GWAS1406877 (human)0.00001vaginal microbiome measurement156202909762029098Human
597242832GWAS1338906_HC-reactive protein measurement QTL GWAS1338906 (human)1e-08C-reactive protein measurementblood C-reactive protein level (CMO:0003160)156203740862037409Human
597344464GWAS1440538_Hglucose measurement QTL GWAS1440538 (human)3e-17glucose measurementblood glucose level (CMO:0000046)156201725062017251Human
597217492GWAS1313566_Hbone density QTL GWAS1313566 (human)6e-199bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)156192515361925154Human
597206356GWAS1302430_Hprotein measurement QTL GWAS1302430 (human)2e-08protein measurement156193110461931105Human
597618003GWAS1674863_Hbody weight QTL GWAS1674863 (human)8e-12body mass (VT:0001259)body weight (CMO:0000012)156200740462007405Human
597060550GWAS1156624_HFEV/FVC ratio QTL GWAS1156624 (human)6e-08FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)156189243761892438Human
407229332GWAS878308_Hbreast size QTL GWAS878308 (human)0.0000002breast sizemammary gland morphological measurement (CMO:0000414)156192857361928574Human
597607503GWAS1664363_Hbody weight QTL GWAS1664363 (human)2e-14body mass (VT:0001259)body weight (CMO:0000012)156199849361998494Human
597583180GWAS1640040_Hbody height QTL GWAS1640040 (human)8e-17body height (VT:0001253)body height (CMO:0000106)156198274161982742Human
597136965GWAS1233039_Hbone density QTL GWAS1233039 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)156205298062052981Human
597603789GWAS1660649_Htype 2 diabetes mellitus QTL GWAS1660649 (human)1e-08type 2 diabetes mellitus156192589961925900Human
406921234GWAS570210_Hlean body mass QTL GWAS570210 (human)0.0000002body lean mass (VT:0010483)total body lean mass (CMO:0003950)156198274161982742Human
597594433GWAS1651293_Hbody mass index QTL GWAS1651293 (human)4e-12body mass indexbody mass index (BMI) (CMO:0000105)156199849361998494Human
597033457GWAS1129531_Hlean body mass QTL GWAS1129531 (human)8e-11body lean mass (VT:0010483)total body lean mass (CMO:0003950)156198274161982742Human
597582969GWAS1639829_Hbody height QTL GWAS1639829 (human)1e-15body height (VT:0001253)body height (CMO:0000106)156203718362037184Human
597293417GWAS1389491_Hbody mass index QTL GWAS1389491 (human)4e-10body mass indexbody mass index (BMI) (CMO:0000105)156202383662023837Human
597046244GWAS1142318_Hfasting blood glucose measurement, glucose tolerance test, fasting blood insulin measurement QTL GWAS1142318 (human)3e-09fasting blood glucose measurement, glucose tolerance test, fasting blood insulin measurementblood insulin level (CMO:0000349)156194018161940182Human
597244395GWAS1340469_HIGF-1 measurement QTL GWAS1340469 (human)2e-09IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)156199888261998883Human
597262954GWAS1359028_Hbody height QTL GWAS1359028 (human)2e-13body height (VT:0001253)body height (CMO:0000106)156198773861987739Human
597046245GWAS1142319_Hfasting blood glucose measurement, glucose tolerance test, fasting blood insulin measurement QTL GWAS1142319 (human)9e-10fasting blood glucose measurement, glucose tolerance test, fasting blood insulin measurementblood insulin level (CMO:0000349)156205568662055687Human
597150179GWAS1246253_Hbody mass index QTL GWAS1246253 (human)7e-13body mass indexbody mass index (BMI) (CMO:0000105)156202383662023837Human
407023290GWAS672266_Hmental or behavioural disorder QTL GWAS672266 (human)0.000004mental or behavioural disorder156202064162020642Human
407020858GWAS669834_Hglucose tolerance test QTL GWAS669834 (human)0.0000001glucose tolerance test156204078162040782Human
597316963GWAS1413037_Hvaginal microbiome measurement QTL GWAS1413037 (human)0.000006vaginal microbiome measurement156203396162033962Human
597195105GWAS1291179_Hhip circumference QTL GWAS1291179 (human)2e-09hip circumferencehip circumference (CMO:0000014)156204356462043565Human
597250658GWAS1346732_Hglucose tolerance test QTL GWAS1346732 (human)6e-10glucose tolerance test156196743861967439Human
597283815GWAS1379889_HC-reactive protein measurement QTL GWAS1379889 (human)2e-08C-reactive protein measurementblood C-reactive protein level (CMO:0003160)156203843462038435Human

Markers in Region
WI-14756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371562,156,518 - 62,156,661UniSTSGRCh37
Build 361559,943,810 - 59,943,953RGDNCBI36
Celera1539,045,964 - 39,046,107RGD
Cytogenetic Map15q22.2UniSTS
HuRef1538,978,827 - 38,978,970UniSTS
GeneMap99-GB4 RH Map15221.09UniSTS
Whitehead-RH Map15216.1UniSTS
NCBI RH Map15364.7UniSTS
AFMB317XG9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371562,289,037 - 62,289,175UniSTSGRCh37
Build 361560,076,329 - 60,076,467RGDNCBI36
Celera1539,178,288 - 39,178,424RGD
Cytogenetic Map15q22.2UniSTS
HuRef1539,111,624 - 39,111,760UniSTS
Whitehead-YAC Contig Map15 UniSTS
RH92101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371562,148,962 - 62,149,096UniSTSGRCh37
Build 361559,936,254 - 59,936,388RGDNCBI36
Celera1539,038,408 - 39,038,542RGD
Cytogenetic Map15q22.2UniSTS
HuRef1538,971,279 - 38,971,413UniSTS
GeneMap99-GB4 RH Map15220.48UniSTS
RH103678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371562,156,213 - 62,156,365UniSTSGRCh37
Build 361559,943,505 - 59,943,657RGDNCBI36
Celera1539,045,659 - 39,045,811RGD
Cytogenetic Map15q22.2UniSTS
HuRef1538,978,522 - 38,978,674UniSTS
GeneMap99-GB4 RH Map15219.68UniSTS
SHGC-79862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371562,322,909 - 62,323,109UniSTSGRCh37
Build 361560,110,201 - 60,110,401RGDNCBI36
Celera1539,212,149 - 39,212,349RGD
Cytogenetic Map15q22.2UniSTS
HuRef1539,145,489 - 39,145,689UniSTS
TNG Radiation Hybrid Map1521892.0UniSTS
D15S872E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371562,178,474 - 62,178,564UniSTSGRCh37
Build 361559,965,766 - 59,965,856RGDNCBI36
Celera1539,067,918 - 39,068,008RGD
Cytogenetic Map15q22.2UniSTS
HuRef1539,000,789 - 39,000,879UniSTS
G17875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371562,266,492 - 62,266,603UniSTSGRCh37
Build 361560,053,784 - 60,053,895RGDNCBI36
Celera1539,155,745 - 39,155,856RGD
Cytogenetic Map15q22.2UniSTS
HuRef1539,089,080 - 39,089,191UniSTS
D10S16   No map positions available.
VPS13C  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371562,172,861 - 62,173,145UniSTSGRCh37
Celera1539,062,303 - 39,062,587UniSTS
HuRef1538,995,176 - 38,995,460UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


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_027782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001018088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ608770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ608771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ626860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ626861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H05069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000249837   ⟹   ENSP00000249837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,852,389 - 62,060,473 (-)Ensembl
Ensembl Acc Id: ENST00000395898   ⟹   ENSP00000379235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,867,744 - 62,060,448 (-)Ensembl
Ensembl Acc Id: ENST00000558088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,951,860 - 61,961,671 (-)Ensembl
Ensembl Acc Id: ENST00000558338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,906,643 - 61,917,532 (-)Ensembl
Ensembl Acc Id: ENST00000558919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,875,787 - 61,881,589 (-)Ensembl
Ensembl Acc Id: ENST00000559119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,854,413 - 61,856,793 (-)Ensembl
Ensembl Acc Id: ENST00000560637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,852,404 - 61,864,760 (-)Ensembl
Ensembl Acc Id: ENST00000561258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,983,713 - 61,991,748 (-)Ensembl
Ensembl Acc Id: ENST00000644861   ⟹   ENSP00000493560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,852,389 - 62,060,447 (-)Ensembl
Ensembl Acc Id: ENST00000645819   ⟹   ENSP00000496179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,864,306 - 62,060,447 (-)Ensembl
Ensembl Acc Id: ENST00000649766   ⟹   ENSP00000498208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,865,558 - 61,920,152 (-)Ensembl
Ensembl Acc Id: ENST00000650094   ⟹   ENSP00000497607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1561,853,452 - 61,958,653 (-)Ensembl
RefSeq Acc Id: NM_001018088   ⟹   NP_001018098
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,864,306 - 62,060,447 (-)NCBI
GRCh371562,144,588 - 62,352,664 (-)ENTREZGENE
Build 361559,947,235 - 60,139,939 (-)NCBI Archive
Celera1539,034,037 - 39,241,888 (-)RGD
HuRef1538,966,908 - 39,175,239 (-)ENTREZGENE
CHM1_11562,276,029 - 62,472,186 (-)NCBI
T2T-CHM13v2.01559,667,889 - 59,864,419 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017684   ⟹   NP_060154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,852,389 - 62,060,447 (-)NCBI
GRCh371562,144,588 - 62,352,664 (-)ENTREZGENE
Build 361559,931,880 - 60,139,939 (-)NCBI Archive
Celera1539,034,037 - 39,241,888 (-)RGD
HuRef1538,966,908 - 39,175,239 (-)ENTREZGENE
CHM1_11562,264,112 - 62,472,186 (-)NCBI
T2T-CHM13v2.01559,655,984 - 59,864,419 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018080   ⟹   NP_060550
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,864,306 - 62,060,447 (-)NCBI
GRCh371562,144,588 - 62,352,664 (-)ENTREZGENE
Build 361559,947,235 - 60,139,939 (-)NCBI Archive
Celera1539,034,037 - 39,241,888 (-)RGD
HuRef1538,966,908 - 39,175,239 (-)ENTREZGENE
CHM1_11562,276,029 - 62,472,186 (-)NCBI
T2T-CHM13v2.01559,667,889 - 59,864,419 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020821   ⟹   NP_065872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,852,389 - 62,060,447 (-)NCBI
GRCh371562,144,588 - 62,352,664 (-)ENTREZGENE
Build 361559,931,884 - 60,139,939 (-)NCBI Archive
Celera1539,034,037 - 39,241,888 (-)RGD
HuRef1538,966,908 - 39,175,239 (-)ENTREZGENE
CHM1_11562,264,112 - 62,472,186 (-)NCBI
T2T-CHM13v2.01559,655,984 - 59,864,419 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521713   ⟹   XP_011520015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,890,339 - 62,060,447 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521714   ⟹   XP_011520016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,918,364 - 62,060,447 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432741   ⟹   XP_047288697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,890,325 - 62,060,447 (-)NCBI
RefSeq Acc Id: XM_047432742   ⟹   XP_047288698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,918,364 - 62,060,447 (-)NCBI
RefSeq Acc Id: XM_054378266   ⟹   XP_054234241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01559,693,990 - 59,864,419 (-)NCBI
RefSeq Acc Id: XM_054378267   ⟹   XP_054234242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01559,694,004 - 59,864,419 (-)NCBI
RefSeq Acc Id: XM_054378268   ⟹   XP_054234243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01559,721,927 - 59,864,419 (-)NCBI
RefSeq Acc Id: XM_054378269   ⟹   XP_054234244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01559,721,927 - 59,864,419 (-)NCBI
RefSeq Acc Id: XR_007064464
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,863,440 - 62,060,447 (-)NCBI
RefSeq Acc Id: XR_008488972
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01559,667,023 - 59,864,419 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001018098 (Get FASTA)   NCBI Sequence Viewer  
  NP_060154 (Get FASTA)   NCBI Sequence Viewer  
  NP_060550 (Get FASTA)   NCBI Sequence Viewer  
  NP_065872 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520015 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520016 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288697 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288698 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234241 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234242 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234243 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234244 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH69387 (Get FASTA)   NCBI Sequence Viewer  
  BAA90972 (Get FASTA)   NCBI Sequence Viewer  
  BAA92659 (Get FASTA)   NCBI Sequence Viewer  
  BAC87549 (Get FASTA)   NCBI Sequence Viewer  
  BAG53972 (Get FASTA)   NCBI Sequence Viewer  
  BAG65241 (Get FASTA)   NCBI Sequence Viewer  
  CAE75582 (Get FASTA)   NCBI Sequence Viewer  
  CAE75583 (Get FASTA)   NCBI Sequence Viewer  
  CAF25187 (Get FASTA)   NCBI Sequence Viewer  
  CAF25188 (Get FASTA)   NCBI Sequence Viewer  
  EAW77599 (Get FASTA)   NCBI Sequence Viewer  
  EAW77600 (Get FASTA)   NCBI Sequence Viewer  
  EAW77601 (Get FASTA)   NCBI Sequence Viewer  
  EAW77602 (Get FASTA)   NCBI Sequence Viewer  
  EAW77603 (Get FASTA)   NCBI Sequence Viewer  
  EAW77604 (Get FASTA)   NCBI Sequence Viewer  
  EAW77605 (Get FASTA)   NCBI Sequence Viewer  
  EAW77606 (Get FASTA)   NCBI Sequence Viewer  
  EAW77607 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000249837
  ENSP00000249837.3
  ENSP00000379235