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

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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
Description: Involved in mitochondrion organization and negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization. Located in cytosol and mitochondrial outer membrane. Implicated in Parkinson's disease 23.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp686E0570; FLJ21361; 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1561,852,389 - 62,060,473 (-)EnsemblGRCh38hg38GRCh38
GRCh381561,852,389 - 62,060,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371562,144,588 - 62,352,646 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361559,931,880 - 60,139,939 (-)NCBINCBI36hg18NCBI36
Build 341559,931,879 - 60,139,939NCBI
Celera1539,034,037 - 39,241,888 (-)NCBI
Cytogenetic Map15q22.2NCBI
HuRef1538,966,908 - 39,175,239 (-)NCBIHuRef
CHM1_11562,264,112 - 62,472,186 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

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:32507414   PMID:32814769   PMID:32877691   PMID:33024031   PMID:33087848   PMID:33579389   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
VPS13C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1561,852,389 - 62,060,473 (-)EnsemblGRCh38hg38GRCh38
GRCh381561,852,389 - 62,060,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371562,144,588 - 62,352,646 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361559,931,880 - 60,139,939 (-)NCBINCBI36hg18NCBI36
Build 341559,931,879 - 60,139,939NCBI
Celera1539,034,037 - 39,241,888 (-)NCBI
Cytogenetic Map15q22.2NCBI
HuRef1538,966,908 - 39,175,239 (-)NCBIHuRef
CHM1_11562,264,112 - 62,472,186 (-)NCBICHM1_1
Vps13c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39967,747,594 - 67,905,026 (+)NCBIGRCm39mm39
GRCm39 Ensembl967,747,678 - 67,902,920 (+)Ensembl
GRCm38967,840,316 - 67,997,744 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl967,840,396 - 67,995,638 (+)EnsemblGRCm38mm10GRCm38
MGSCv37967,688,203 - 67,843,441 (+)NCBIGRCm37mm9NCBIm37
MGSCv36967,639,567 - 67,796,023 (+)NCBImm8
MGSCv36968,440,120 - 68,593,896 (+)NCBImm8
Celera965,070,042 - 65,224,890 (+)NCBICelera
Cytogenetic Map9CNCBI
Vps13c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2868,478,366 - 68,651,893 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl868,478,395 - 68,651,895 (+)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 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11559,116,946 - 59,319,705 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1559,119,001 - 59,319,619 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01540,819,512 - 41,020,644 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.03026,777,160 - 26,946,615 (-)NCBI
UMICH_Zoey_3.13026,714,979 - 26,884,285 (-)NCBI
UNSW_CanFamBas_1.03026,773,728 - 26,944,232 (-)NCBI
UU_Cfam_GSD_1.03027,018,883 - 27,188,026 (-)NCBI
Vps13c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640104,813,396 - 104,994,087 (-)NCBI
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 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2621,463,657 - 21,648,603 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666048119,739,546 - 119,924,207 (-)NCBIVero_WHO_p1.0
Vps13c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478110,259,971 - 10,414,421 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
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

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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1562 1313 1098 148 1114 65 2461 827 1606 203 905 1421 94 1 915 1569 5 2
Low 877 1631 628 476 792 400 1896 1368 2128 216 555 192 81 289 1219 1
Below cutoff 47 45 2

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
  XR_001751332 (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
  CR936716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H05069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000249837   ⟹   ENSP00000249837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,852,389 - 62,060,473 (-)Ensembl
RefSeq Acc Id: ENST00000395898   ⟹   ENSP00000379235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,867,744 - 62,060,448 (-)Ensembl
RefSeq Acc Id: ENST00000558088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,951,860 - 61,961,671 (-)Ensembl
RefSeq Acc Id: ENST00000558338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,906,643 - 61,917,532 (-)Ensembl
RefSeq Acc Id: ENST00000558919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,875,787 - 61,881,589 (-)Ensembl
RefSeq Acc Id: ENST00000559119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,854,413 - 61,856,793 (-)Ensembl
RefSeq Acc Id: ENST00000560637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,852,404 - 61,864,760 (-)Ensembl
RefSeq Acc Id: ENST00000561258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,983,713 - 61,991,748 (-)Ensembl
RefSeq Acc Id: ENST00000644861   ⟹   ENSP00000493560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,852,389 - 62,060,447 (-)Ensembl
RefSeq Acc Id: ENST00000645819   ⟹   ENSP00000496179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,864,306 - 62,060,447 (-)Ensembl
RefSeq Acc Id: ENST00000649766   ⟹   ENSP00000498208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1561,865,558 - 61,920,152 (-)Ensembl
RefSeq Acc Id: ENST00000650094   ⟹   ENSP00000497607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
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
Sequence:
RefSeq Acc Id: XM_011521713   ⟹   XP_011520015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,890,336 - 62,060,426 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521714   ⟹   XP_011520016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,918,366 - 62,060,426 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001751332
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,852,399 - 62,060,426 (-)NCBI
Sequence:
RefSeq Acc Id: XR_931855
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381561,884,185 - 62,060,426 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060154   ⟸   NM_017684
- Peptide Label: isoform 1A
- UniProtKB: Q709C8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_065872   ⟸   NM_020821
- Peptide Label: isoform 2A
- UniProtKB: Q709C8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001018098   ⟸   NM_001018088
- Peptide Label: isoform 2B
- UniProtKB: Q709C8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060550   ⟸   NM_018080
- Peptide Label: isoform 1B
- UniProtKB: Q709C8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520015   ⟸   XM_011521713
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011520016   ⟸   XM_011521714
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000498208   ⟸   ENST00000649766
RefSeq Acc Id: ENSP00000497607   ⟸   ENST00000650094
RefSeq Acc Id: ENSP00000249837   ⟸   ENST00000249837
RefSeq Acc Id: ENSP00000493560   ⟸   ENST00000644861
RefSeq Acc Id: ENSP00000496179   ⟸   ENST00000645819
RefSeq Acc Id: ENSP00000379235   ⟸   ENST00000395898
Protein Domains
ATG_C   Chorein N-terminal   SHR-BD   VPS13_C   VPS13_mid_rpt

Promoters
RGD ID:6792265
Promoter ID:HG_KWN:21571
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395896,   ENST00000395898,   NM_001018088,   NM_018080,   OTTHUMT00000256218,   UC002AGZ.1,   UC002AHE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361560,139,381 - 60,140,552 (-)MPROMDB
RGD ID:7229713
Promoter ID:EPDNEW_H20602
Type:initiation region
Name:VPS13C_1
Description:vacuolar protein sorting 13 homolog C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381562,060,402 - 62,060,462EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) 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 Parkinson disease 23, autosomal recessive early-onset [RCV000660525]|not provided [RCV000913670] Chr15:62028419 [GRCh38]
Chr15:62320618 [GRCh37]
Chr15:15q22.2
likely benign|uncertain significance
Single allele 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 Parkinson disease 23, autosomal recessive early-onset [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.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 Parkinson disease 23, autosomal recessive early-onset [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 Parkinson disease 23, autosomal recessive early-onset [RCV000210216]|Parkinson disease [RCV000236364] Chr15:61915631 [GRCh38]
Chr15:62207830 [GRCh37]
Chr15:15q22.2
pathogenic
NM_020821.3(VPS13C):c.4777del (p.Gln1593fs) deletion Parkinson disease 23, autosomal recessive early-onset [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 Parkinson disease 23, autosomal recessive early-onset [RCV000210217]|Parkinson disease [RCV000236463] Chr15:61958608 [GRCh38]
Chr15:62250807 [GRCh37]
Chr15:15q22.2
pathogenic
NM_020821.3(VPS13C):c.802_805dup (p.Arg269fs) duplication Parkinson disease 23, autosomal recessive early-onset [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 Parkinson disease 23, autosomal recessive early-onset [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_000085.5(CLCNKB):c.101-50G>C single nucleotide variant 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_005529.7(HSPG2):c.6141T>C (p.Asp2047=) single nucleotide variant not provided [RCV001644236] Chr15:61967438 [GRCh38]
Chr15:62259637 [GRCh37]
Chr15:15q22.2
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001707952] Chr15:61910078 [GRCh38]
Chr15:62202277 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679070] Chr15:61983698 [GRCh38]
Chr15:62275897 [GRCh37]
Chr15:15q22.2
benign
null insertion not provided [RCV001692840] Chr15:61972820..61972821 [GRCh38]
Chr15:62265019..62265020 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679215] Chr15:61873378 [GRCh38]
Chr15:62165577 [GRCh37]
Chr15:15q22.2
benign
null 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
null single nucleotide variant not provided [RCV001709146] Chr15:61889999 [GRCh38]
Chr15:62182198 [GRCh37]
Chr15:15q22.2
benign
null 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
null single nucleotide variant not provided [RCV001669500] Chr15:61940968 [GRCh38]
Chr15:62233167 [GRCh37]
Chr15:15q22.2
benign
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) single nucleotide variant not provided [RCV001641256] Chr15:61982818 [GRCh38]
Chr15:62275017 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001611773] Chr15:61927032 [GRCh38]
Chr15:62219231 [GRCh37]
Chr15:15q22.2
benign
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) single nucleotide variant not provided [RCV001643381] Chr15:61990899 [GRCh38]
Chr15:62283098 [GRCh37]
Chr15:15q22.2
benign
null 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 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 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 not provided [RCV000900135] Chr15:61964749 [GRCh38]
Chr15:62256948 [GRCh37]
Chr15:15q22.2
likely benign
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 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 not provided [RCV000971631] Chr15:61877033 [GRCh38]
Chr15:62169232 [GRCh37]
Chr15:15q22.2
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
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
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 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] 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 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 not provided [RCV000916245] Chr15:61873270 [GRCh38]
Chr15:62165469 [GRCh37]
Chr15:15q22.2
benign
NM_020821.3(VPS13C):c.1625C>T (p.Thr542Met) single nucleotide variant 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 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 not provided [RCV000962993] Chr15:61982559 [GRCh38]
Chr15:62274758 [GRCh37]
Chr15:15q22.2
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
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 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.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 specified [RCV001199846] Chr15:62008671 [GRCh38]
Chr15:62300870 [GRCh37]
Chr15:15q22.2
uncertain significance
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001685917] Chr15:61880708 [GRCh38]
Chr15:62172907 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001690412] Chr15:61950998 [GRCh38]
Chr15:62243197 [GRCh37]
Chr15:15q22.2
benign
NM_004360.5(CDH1):c.49-8C>T insertion not provided [RCV001713210] Chr15:61856603..61856604 [GRCh38]
Chr15:62148802..62148803 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001695465] Chr15:61954665 [GRCh38]
Chr15:62246864 [GRCh37]
Chr15:15q22.2
benign
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) single nucleotide variant not provided [RCV001725446] Chr15:61946032 [GRCh38]
Chr15:62238231 [GRCh37]
Chr15:15q22.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001661002] Chr15:61910091 [GRCh38]
Chr15:62202290 [GRCh37]
Chr15:15q22.2
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001638400] Chr15:62008895 [GRCh38]
Chr15:62301094 [GRCh37]
Chr15:15q22.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) microsatellite not provided [RCV001654182] Chr15:61961395..61961404 [GRCh38]
Chr15:62253594..62253603 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001648588] Chr15:61931074 [GRCh38]
Chr15:62223273 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001709110] Chr15:61880778 [GRCh38]
Chr15:62172977 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C deletion not provided [RCV001687251] Chr15:61913627..61913632 [GRCh38]
Chr15:62205826..62205831 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001669446] Chr15:61919251 [GRCh38]
Chr15:62211450 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C duplication not provided [RCV001680160] Chr15:61950555..61950556 [GRCh38]
Chr15:62242754..62242755 [GRCh37]
Chr15:15q22.2
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639773] Chr15:61951918 [GRCh38]
Chr15:62244117 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001620181] Chr15:61882820 [GRCh38]
Chr15:62175019 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001614060] Chr15:61946149 [GRCh38]
Chr15:62238348 [GRCh37]
Chr15:15q22.2
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639822] Chr15:61854399 [GRCh38]
Chr15:62146598 [GRCh37]
Chr15:15q22.2
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639862] Chr15:61880786 [GRCh38]
Chr15:62172985 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001710084] Chr15:61946585 [GRCh38]
Chr15:62238784 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001669767] Chr15:61936497 [GRCh38]
Chr15:62228696 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001680408] Chr15:61920099 [GRCh38]
Chr15:62212298 [GRCh37]
Chr15:15q22.2
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001676642] Chr15:61952082 [GRCh38]
Chr15:62244281 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001649670] Chr15:61929393 [GRCh38]
Chr15:62221592 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001620413] Chr15:62020641 [GRCh38]
Chr15:62312840 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001616938] Chr15:61977338 [GRCh38]
Chr15:62269537 [GRCh37]
Chr15:15q22.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001716480] Chr15:61875698 [GRCh38]
Chr15:62167897 [GRCh37]
Chr15:15q22.2
benign
null microsatellite not provided [RCV001594634] Chr15:62012221..62012222 [GRCh38]
Chr15:62304420..62304421 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001689426] Chr15:61969542 [GRCh38]
Chr15:62261741 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001673444] Chr15:61945694 [GRCh38]
Chr15:62237893 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001670764] Chr15:62023836 [GRCh38]
Chr15:62316035 [GRCh37]
Chr15:15q22.2
benign
null microsatellite not provided [RCV001672385] Chr15:61961395..61961396 [GRCh38]
Chr15:62253594..62253595 [GRCh37]
Chr15:15q22.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001653451] Chr15:62034928 [GRCh38]
Chr15:62327127 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001665905] Chr15:61947105 [GRCh38]
Chr15:62239304 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001695118] Chr15:62023632 [GRCh38]
Chr15:62315831 [GRCh37]
Chr15:15q22.2
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677407] Chr15:61882935 [GRCh38]
Chr15:62175134 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) 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 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
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
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 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 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 not provided [RCV000953338] Chr15:61915712 [GRCh38]
Chr15:62207911 [GRCh37]
Chr15:15q22.2
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 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 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 not provided [RCV000957417] Chr15:61963932 [GRCh38]
Chr15:62256131 [GRCh37]
Chr15:15q22.2
benign
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_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001656678] Chr15:62007621 [GRCh38]
Chr15:62299820 [GRCh37]
Chr15:15q22.2
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001688638] Chr15:61978566 [GRCh38]
Chr15:62270765 [GRCh37]
Chr15:15q22.2
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001598163] Chr15:61929480 [GRCh38]
Chr15:62221679 [GRCh37]
Chr15:15q22.2
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001688873] Chr15:61915420 [GRCh38]
Chr15:62207619 [GRCh37]
Chr15:15q22.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001655976] Chr15:61874818 [GRCh38]
Chr15:62167017 [GRCh37]
Chr15:15q22.2
benign
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
null single nucleotide variant not provided [RCV001621324] Chr15:62060175 [GRCh38]
Chr15:62352374 [GRCh37]
Chr15:15q22.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001654610] Chr15:61991866 [GRCh38]
Chr15:62284065 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001676096] Chr15:62060644 [GRCh38]
Chr15:62352843 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001619273] Chr15:61954355 [GRCh38]
Chr15:62246554 [GRCh37]
Chr15:15q22.2
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677462] Chr15:61876062 [GRCh38]
Chr15:62168261 [GRCh37]
Chr15:15q22.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001661079] Chr15:62035193 [GRCh38]
Chr15:62327392 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001685817] Chr15:62000757 [GRCh38]
Chr15:62292956 [GRCh37]
Chr15:15q22.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001715564] Chr15:61918305 [GRCh38]
Chr15:62210504 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C microsatellite not provided [RCV001686818] Chr15:62012222..62012227 [GRCh38]
Chr15:62304421..62304426 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001637772] Chr15:62012891 [GRCh38]
Chr15:62305090 [GRCh37]
Chr15:15q22.2
benign
null deletion not provided [RCV001635559] Chr15:61856532 [GRCh38]
Chr15:62148731 [GRCh37]
Chr15:15q22.2
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001638217] Chr15:61918376 [GRCh38]
Chr15:62210575 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001649568] Chr15:61868543 [GRCh38]
Chr15:62160742 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001687389] Chr15:61908775 [GRCh38]
Chr15:62200974 [GRCh37]
Chr15:15q22.2
benign
null duplication not provided [RCV001596155] Chr15:61946648..61946649 [GRCh38]
Chr15:62238847..62238848 [GRCh37]
Chr15:15q22.2
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001599024] Chr15:61882695 [GRCh38]
Chr15:62174894 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C 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_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001649654] Chr15:62033319 [GRCh38]
Chr15:62325518 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001615025] Chr15:61922304 [GRCh38]
Chr15:62214503 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001694009] Chr15:61929987 [GRCh38]
Chr15:62222186 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C microsatellite not provided [RCV001680342] Chr15:62012222..62012225 [GRCh38]
Chr15:62304421..62304424 [GRCh37]
Chr15:15q22.2
benign
null deletion not provided [RCV001695355] Chr15:61868445 [GRCh38]
Chr15:62160644 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001709467] Chr15:61962693 [GRCh38]
Chr15:62254892 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001648014] Chr15:61962973 [GRCh38]
Chr15:62255172 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001693406] Chr15:61934489 [GRCh38]
Chr15:62226688 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001667761] Chr15:62044080 [GRCh38]
Chr15:62336279 [GRCh37]
Chr15:15q22.2
benign
null microsatellite not provided [RCV001710972] Chr15:61961550..61961554 [GRCh38]
Chr15:62253749..62253753 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001711013] Chr15:61911685 [GRCh38]
Chr15:62203884 [GRCh37]
Chr15:15q22.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001713361] Chr15:61936571 [GRCh38]
Chr15:62228770 [GRCh37]
Chr15:15q22.2
benign
null microsatellite not provided [RCV001695580] Chr15:62012221..62012222 [GRCh38]
Chr15:62304420..62304421 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001616185] Chr15:62014064 [GRCh38]
Chr15:62306263 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001648143] Chr15:61959252 [GRCh38]
Chr15:62251451 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001710541] Chr15:62023275 [GRCh38]
Chr15:62315474 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001672252] Chr15:61967573 [GRCh38]
Chr15:62259772 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) microsatellite not provided [RCV001651529] Chr15:61961395..61961398 [GRCh38]
Chr15:62253594..62253597 [GRCh37]
Chr15:15q22.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001713568] Chr15:61982741 [GRCh38]
Chr15:62274940 [GRCh37]
Chr15:15q22.2
benign
null microsatellite not provided [RCV001693639] Chr15:61961395..61961414 [GRCh38]
Chr15:62253594..62253613 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001693680] Chr15:61951630 [GRCh38]
Chr15:62243829 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001685660] Chr15:61973308 [GRCh38]
Chr15:62265507 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C duplication not provided [RCV001680458] Chr15:61907049..61907050 [GRCh38]
Chr15:62199248..62199249 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679304] Chr15:61882804 [GRCh38]
Chr15:62175003 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001645334] Chr15:61876873 [GRCh38]
Chr15:62169072 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C microsatellite not provided [RCV001679590] Chr15:62012221..62012222 [GRCh38]
Chr15:62304420..62304421 [GRCh37]
Chr15:15q22.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001714135] Chr15:61945511 [GRCh38]
Chr15:62237710 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001609381] Chr15:61934224 [GRCh38]
Chr15:62226423 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679626] Chr15:62023751 [GRCh38]
Chr15:62315950 [GRCh37]
Chr15:15q22.2
benign
null microsatellite not provided [RCV001696462] Chr15:61961395..61961406 [GRCh38]
Chr15:62253594..62253605 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) 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] Chr15:61856408 [GRCh38]
Chr15:62148607 [GRCh37]
Chr15:15q22.2
pathogenic|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 Parkinson disease 23, autosomal recessive early-onset [RCV001262677] Chr15:62008662 [GRCh38]
Chr15:62300861 [GRCh37]
Chr15:15q22.2
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 Parkinson disease 23, autosomal recessive early-onset [RCV001330972] Chr15:61991747 [GRCh38]
Chr15:62283946 [GRCh37]
Chr15:15q22.2
uncertain significance
NM_020821.3(VPS13C):c.1119G>A (p.Trp373Ter) single nucleotide variant Parkinson disease 23, autosomal recessive early-onset [RCV001329805] Chr15:62007479 [GRCh38]
Chr15:62299678 [GRCh37]
Chr15:15q22.2
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 Parkinson disease 23, autosomal recessive early-onset [RCV001332171] Chr15:61991672 [GRCh38]
Chr15:62283871 [GRCh37]
Chr15:15q22.2
likely pathogenic
NM_020821.3(VPS13C):c.7382dup (p.Asn2461fs) duplication Parkinson disease 23, autosomal recessive early-onset [RCV001335085] Chr15:61920161..61920162 [GRCh38]
Chr15:62212360..62212361 [GRCh37]
Chr15:15q22.2
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
null single nucleotide variant not provided [RCV001709167] Chr15:61907381 [GRCh38]
Chr15:62199580 [GRCh37]
Chr15:15q22.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001715096] Chr15:61907212 [GRCh38]
Chr15:62199411 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001675369] Chr15:61947498 [GRCh38]
Chr15:62239697 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001695200] Chr15:61920582 [GRCh38]
Chr15:62212781 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001686231] Chr15:61974466 [GRCh38]
Chr15:62266665 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001650653] Chr15:61880410 [GRCh38]
Chr15:62172609 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001693316] Chr15:61919191 [GRCh38]
Chr15:62211390 [GRCh37]
Chr15:15q22.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001654934] Chr15:62010628 [GRCh38]
Chr15:62302827 [GRCh37]
Chr15:15q22.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001649514] Chr15:61961592 [GRCh38]
Chr15:62253791 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C microsatellite not provided [RCV001687162] Chr15:62012221..62012222 [GRCh38]
Chr15:62304420..62304421 [GRCh37]
Chr15:15q22.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) microsatellite not provided [RCV001655532] Chr15:61961394..61961395 [GRCh38]
Chr15:62253593..62253594 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001618954] Chr15:61991902 [GRCh38]
Chr15:62284101 [GRCh37]
Chr15:15q22.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001655144] Chr15:61929355 [GRCh38]
Chr15:62221554 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001613768] Chr15:61962790 [GRCh38]
Chr15:62254989 [GRCh37]
Chr15:15q22.2
benign
null deletion not provided [RCV001695774] Chr15:61909135 [GRCh38]
Chr15:62201334 [GRCh37]
Chr15:15q22.2
benign
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) single nucleotide variant not provided [RCV001644044] Chr15:62010687 [GRCh38]
Chr15:62302886 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001686598] Chr15:61922408 [GRCh38]
Chr15:62214607 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001709953] Chr15:61918075 [GRCh38]
Chr15:62210274 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001617873] Chr15:61869279 [GRCh38]
Chr15:62161478 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001687038] Chr15:61873354 [GRCh38]
Chr15:62165553 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001674851] Chr15:61910283 [GRCh38]
Chr15:62202482 [GRCh37]
Chr15:15q22.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001685314] Chr15:61949763 [GRCh38]
Chr15:62241962 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001618108] Chr15:61974584 [GRCh38]
Chr15:62266783 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant not provided [RCV001616462] Chr15:61868559 [GRCh38]
Chr15:62160758 [GRCh37]
Chr15:15q22.2
benign
null single nucleotide variant 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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23594 AgrOrtholog
COSMIC VPS13C COSMIC
Ensembl Genes ENSG00000129003 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000249837 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379235 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493560 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000496179 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000497607 UniProtKB/TrEMBL
  ENSP00000498208 UniProtKB/TrEMBL
Ensembl Transcript ENST00000249837 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395898 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644861 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000645819 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000649766 UniProtKB/TrEMBL
  ENST00000650094 UniProtKB/TrEMBL
GTEx ENSG00000129003 GTEx
HGNC ID HGNC:23594 ENTREZGENE
Human Proteome Map VPS13C Human Proteome Map
InterPro Autophagy-rel_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHR-BD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS13_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS13_mid_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS13_N UniProtKB/Swiss-Prot
  VPS13_N2 UniProtKB/Swiss-Prot
  WWE_dom_sf UniProtKB/TrEMBL
KEGG Report hsa:54832 UniProtKB/Swiss-Prot
NCBI Gene 54832 ENTREZGENE
OMIM 608879 OMIM
  616840 OMIM
PANTHER PTHR16166 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ATG_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chorein_N UniProtKB/Swiss-Prot
  SHR-BD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS13 UniProtKB/Swiss-Prot
  VPS13_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS13_mid_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134990089 PharmGKB
Superfamily-SCOP SSF117839 UniProtKB/TrEMBL
UniProt A0A3B3IT88_HUMAN UniProtKB/TrEMBL
  A0A3B3IU50_HUMAN UniProtKB/TrEMBL
  Q709C8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6ISR4 UniProtKB/Swiss-Prot
  Q702P2 UniProtKB/Swiss-Prot
  Q702P3 UniProtKB/Swiss-Prot
  Q709C9 UniProtKB/Swiss-Prot
  Q9NXN8 UniProtKB/Swiss-Prot
  Q9P2C6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 VPS13C  vacuolar protein sorting 13 homolog C    vacuolar protein sorting 13 homolog C (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED