VPS13A (vacuolar protein sorting 13 homolog A) - Rat Genome Database

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Gene: VPS13A (vacuolar protein sorting 13 homolog A) Homo sapiens
Analyze
Symbol: VPS13A
Name: vacuolar protein sorting 13 homolog A
RGD ID: 1312307
HGNC Page HGNC:1908
Description: Involved in lysosomal protein catabolic process. Acts upstream of or within autophagy. Located in several cellular components, including bounding membrane of organelle; lipid droplet; and mitochondria-associated endoplasmic reticulum membrane contact site. Implicated in choreaacanthocytosis and choreatic disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BLTP5A; bridge-like lipid transfer protein family member 5A; CHAC; chorea-acanthocytosis protein; CHOREIN; FLJ42030; intermembrane lipid transfer protein VPS13A; KIAA0986; vacuolar protein sorting 13 homolog A (S. cerevisiae); vacuolar protein sorting 13A; vacuolar protein sorting-associated protein 13A
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
GRCh38977,177,534 - 77,421,537 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl977,177,445 - 77,421,537 (+)EnsemblGRCh38hg38GRCh38
GRCh37979,792,450 - 80,036,453 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36978,982,181 - 79,222,219 (+)NCBINCBI36Build 36hg18NCBI36
Celera950,369,484 - 50,609,533 (+)NCBICelera
Cytogenetic Map9q21.2NCBI
HuRef949,623,817 - 49,863,840 (+)NCBIHuRef
CHM1_1979,938,844 - 80,179,199 (+)NCBICHM1_1
T2T-CHM13v2.0989,334,100 - 89,578,104 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
amitrole  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bisphenol A  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
clorgyline  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
indometacin  (EXP)
ketamine  (ISO)
L-methionine  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
testosterone  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
trovafloxacin  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal erythrocyte enzyme concentration or activity  (IAGP)
Abnormal hippocampus morphology  (IAGP)
Abnormal putamen morphology  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormally slow thought process  (IAGP)
Absent Achilles reflex  (IAGP)
Acanthocytosis  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Areflexia  (IAGP)
Arthritis  (IAGP)
Atypical behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blepharospasm  (IAGP)
Bradykinesia  (IAGP)
Bruxism  (IAGP)
Caudate atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chorea  (IAGP)
Compulsive behaviors  (IAGP)
Decreased amplitude of sensory action potentials  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Dilated cardiomyopathy  (IAGP)
Disinhibition  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: neuropathic changes  (IAGP)
Emotional lability  (IAGP)
Equinovarus deformity  (IAGP)
Falls  (IAGP)
Frontal cortical atrophy  (IAGP)
Functional motor deficit  (IAGP)
Hair-pulling  (IAGP)
Head titubation  (IAGP)
Head-banging  (IAGP)
Hepatomegaly  (IAGP)
Hyperactivity  (IAGP)
Hyperkinetic movements  (IAGP)
Hypertonia  (IAGP)
Hypoplastic hippocampus  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impaired vibratory sensation  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Involuntary movements  (IAGP)
Iron accumulation in brain  (IAGP)
Irritability  (IAGP)
Laryngeal dystonia  (IAGP)
Lateral ventricle dilatation  (IAGP)
Limb dystonia  (IAGP)
Limb muscle weakness  (IAGP)
Lingual dystonia  (IAGP)
Loss of ambulation  (IAGP)
Mental deterioration  (IAGP)
Micrographia  (IAGP)
Middle age onset  (IAGP)
Motor tics  (IAGP)
Muscle fiber atrophy  (IAGP)
Myopathy  (IAGP)
Orofacial dyskinesia  (IAGP)
Oromandibular dystonia  (IAGP)
Paranoia  (IAGP)
Parkinsonism  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peroneal muscle atrophy  (IAGP)
Personality changes  (IAGP)
Pes cavus  (IAGP)
Phonic tics  (IAGP)
Poor motor coordination  (IAGP)
Progressive  (IAGP)
Progressive choreoathetosis  (IAGP)
Protruding tongue  (IAGP)
Psychosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Resting tremor  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Self-mutilation of tongue and lips due to involuntary movements  (IAGP)
Self-neglect  (IAGP)
Sensory neuropathy  (IAGP)
Short attention span  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep abnormality  (IAGP)
Slow saccadic eye movements  (IAGP)
Slurred speech  (IAGP)
Small basal ganglia  (IAGP)
Socially inappropriate behavior  (IAGP)
Splenomegaly  (IAGP)
Square-wave jerks  (IAGP)
Temporomandibular joint crepitus  (IAGP)
Tics  (IAGP)
Upgaze palsy  (IAGP)
Weight loss  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Rampoldi L, etal., Nat Genet. 2001 Jun;28(2):119-20.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:9382101   PMID:10231032   PMID:10737800   PMID:11381254   PMID:12477932   PMID:12671946   PMID:14702039   PMID:15146197   PMID:15164053   PMID:15489334  
PMID:15498460   PMID:15918062   PMID:17474147   PMID:17673232   PMID:17998451   PMID:20301334   PMID:20301561   PMID:20379614   PMID:21598378   PMID:21733561   PMID:21873635   PMID:21987550  
PMID:22038564   PMID:22227296   PMID:22366033   PMID:23568775   PMID:23746940   PMID:24129186   PMID:24189400   PMID:25871399   PMID:25996471   PMID:26186194   PMID:26316086   PMID:26344197  
PMID:26389662   PMID:26496610   PMID:26813249   PMID:27742708   PMID:27880917   PMID:27960157   PMID:28244758   PMID:28334785   PMID:28514442   PMID:28692057   PMID:29253590   PMID:29507755  
PMID:29568061   PMID:29676528   PMID:29752031   PMID:30093493   PMID:30709847   PMID:30741634   PMID:31056421   PMID:31091453   PMID:31182584   PMID:31617661   PMID:31871319   PMID:32131761  
PMID:32151030   PMID:32407779   PMID:32423001   PMID:32845802   PMID:32877691   PMID:33087848   PMID:33159041   PMID:33766124   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34349018   PMID:34432599   PMID:34800366   PMID:34830155   PMID:35271311   PMID:35357422   PMID:35575683   PMID:35844135   PMID:35950506   PMID:35994651   PMID:36180527   PMID:36215168  
PMID:36538041   PMID:36966971   PMID:36977596   PMID:37071682   PMID:37209156   PMID:37478010   PMID:37670483   PMID:37744224   PMID:37774976   PMID:37931956   PMID:38113892   PMID:38172120  
PMID:39324427  


Genomics

Comparative Map Data
VPS13A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38977,177,534 - 77,421,537 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl977,177,445 - 77,421,537 (+)EnsemblGRCh38hg38GRCh38
GRCh37979,792,450 - 80,036,453 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36978,982,181 - 79,222,219 (+)NCBINCBI36Build 36hg18NCBI36
Celera950,369,484 - 50,609,533 (+)NCBICelera
Cytogenetic Map9q21.2NCBI
HuRef949,623,817 - 49,863,840 (+)NCBIHuRef
CHM1_1979,938,844 - 80,179,199 (+)NCBICHM1_1
T2T-CHM13v2.0989,334,100 - 89,578,104 (+)NCBIT2T-CHM13v2.0
Vps13a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391916,592,730 - 16,758,433 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1916,592,730 - 16,758,297 (-)EnsemblGRCm39 Ensembl
GRCm381916,615,366 - 16,781,071 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1916,615,366 - 16,780,933 (-)EnsemblGRCm38mm10GRCm38
MGSCv371916,691,164 - 16,855,417 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361916,683,693 - 16,847,946 (-)NCBIMGSCv36mm8
Celera1917,275,535 - 17,440,000 (-)NCBICelera
Cytogenetic Map19A- BNCBI
cM Map1911.71NCBI
Vps13a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81223,328,784 - 223,555,500 (-)NCBIGRCr8
mRatBN7.21213,901,999 - 214,128,638 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1213,901,999 - 214,128,555 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1222,230,525 - 222,462,915 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01229,165,841 - 229,392,426 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01221,985,083 - 222,217,463 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01235,352,513 - 235,813,597 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1235,653,121 - 235,813,030 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01242,670,357 - 243,128,666 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41219,987,826 - 220,221,494 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11220,153,337 - 220,385,366 (-)NCBI
Celera1211,235,485 - 211,455,239 (-)NCBICelera
Cytogenetic Map1q43NCBI
Vps13a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555122,039,115 - 2,267,099 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555122,037,803 - 2,267,197 (-)NCBIChiLan1.0ChiLan1.0
VPS13A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21176,337,834 - 76,581,678 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1976,343,550 - 76,587,617 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0947,424,921 - 47,668,150 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1976,032,292 - 76,275,155 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl976,032,286 - 76,269,636 (+)Ensemblpanpan1.1panPan2
VPS13A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1181,191,125 - 81,426,337 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl181,192,349 - 81,426,322 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha181,654,790 - 81,889,759 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0181,603,680 - 81,839,234 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl181,604,885 - 81,839,239 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1181,389,076 - 81,624,112 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0181,110,788 - 81,346,344 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0181,839,940 - 82,075,231 (-)NCBIUU_Cfam_GSD_1.0
Vps13a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947128,315,230 - 128,566,983 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650312,606,014 - 12,858,005 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650312,606,019 - 12,857,807 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VPS13A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1230,069,368 - 230,331,200 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11230,069,339 - 230,331,343 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21256,783,098 - 256,879,557 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VPS13A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11288,140,842 - 88,380,966 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1288,167,258 - 88,379,614 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603876,526,493 - 76,716,430 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vps13a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248114,640,090 - 4,901,510 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248114,639,926 - 4,902,749 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VPS13A
2797 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu) single nucleotide variant Chorea-acanthocytosis [RCV001274082]|Inborn genetic diseases [RCV002527558]|VPS13A-related disorder [RCV003960229]|not provided [RCV000861470] Chr9:77307991 [GRCh38]
Chr9:79922907 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=) single nucleotide variant Chorea-acanthocytosis [RCV001834678]|not provided [RCV000863644]|not specified [RCV000516435] Chr9:77318462 [GRCh38]
Chr9:79933378 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2288A>G (p.Lys763Arg) single nucleotide variant not provided [RCV000517052] Chr9:77252352 [GRCh38]
Chr9:79867268 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2513-2A>T single nucleotide variant Chorea-acanthocytosis [RCV001835838]|not provided [RCV000521085] Chr9:77275496 [GRCh38]
Chr9:79890412 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=) single nucleotide variant Chorea-acanthocytosis [RCV001276365]|not provided [RCV000861940]|not specified [RCV000517976] Chr9:77276145 [GRCh38]
Chr9:79891061 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.6690C>T (p.Asp2230=) single nucleotide variant Chorea-acanthocytosis [RCV000605972]|VPS13A-related disorder [RCV003905311]|not provided [RCV000862445] Chr9:77339827 [GRCh38]
Chr9:79954743 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.1498G>A (p.Val500Ile) single nucleotide variant not specified [RCV000517080] Chr9:77228167 [GRCh38]
Chr9:79843083 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) single nucleotide variant Chorea-acanthocytosis [RCV001167806]|not provided [RCV000519799] Chr9:77318543 [GRCh38]
Chr9:79933459 [GRCh37]
Chr9:9q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe) single nucleotide variant Chorea-acanthocytosis [RCV001276364]|not specified [RCV000517882] Chr9:77238066 [GRCh38]
Chr9:79852982 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter) single nucleotide variant Chorea-acanthocytosis [RCV000030800] Chr9:77226546 [GRCh38]
Chr9:79841462 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.7116C>T (p.Asn2372=) single nucleotide variant not provided [RCV001394553] Chr9:77344242 [GRCh38]
Chr9:79959158 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys) single nucleotide variant Chorea-acanthocytosis [RCV000004946] Chr9:77205394 [GRCh38]
Chr9:79820310 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) duplication Chorea-acanthocytosis [RCV000004947]|not provided [RCV001236468] Chr9:77339540..77339541 [GRCh38]
Chr9:79954456..79954457 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NG_008931.2:g.(188110_192927)_(194341_195522)del deletion Chorea-acanthocytosis [RCV000004948] Chr9:9q21 pathogenic
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) single nucleotide variant Chorea-acanthocytosis [RCV000004949]|not provided [RCV002512780] Chr9:77213240 [GRCh38]
Chr9:79828156 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr) single nucleotide variant Chorea-acanthocytosis [RCV000004950] Chr9:77358438 [GRCh38]
Chr9:79973354 [GRCh37]
Chr9:9q21.2		 pathogenic
VPS13A, 1-BP DEL, 6059C deletion Chorea-acanthocytosis [RCV000004951] Chr9:9q21 pathogenic
NG_008931.2:g.(?_87553)_(87693_?)del deletion Chorea-acanthocytosis [RCV000004952] Chr9:9q21 pathogenic
NC_000009.12:g.77390734_77428010del deletion Chorea-acanthocytosis [RCV000004953] Chr9:77390734..77428010 [GRCh38]
Chr9:9q21.2		 pathogenic
VPS13A, 2-BP DUP, 3556AC duplication Chorea-acanthocytosis [RCV000004954] Chr9:9q21 pathogenic
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu) single nucleotide variant Chorea-acanthocytosis [RCV001835835]|not specified [RCV000518503] Chr9:77316369 [GRCh38]
Chr9:79931285 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr) single nucleotide variant Chorea-acanthocytosis [RCV001167732]|not provided [RCV000520881] Chr9:77283382 [GRCh38]
Chr9:79898298 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) single nucleotide variant Chorea-acanthocytosis [RCV000616896]|VPS13A-related disorder [RCV003905310]|not provided [RCV000516281]|not specified [RCV001644621] Chr9:77316185 [GRCh38]
Chr9:79931101 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter) single nucleotide variant Chorea-acanthocytosis [RCV001829479]|not provided [RCV000518026] Chr9:77314663 [GRCh38]
Chr9:79929579 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.398C>T (p.Pro133Leu) single nucleotide variant not provided [RCV002527557]|not specified [RCV000516181] Chr9:77209435 [GRCh38]
Chr9:79824351 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1 copy number loss See cases [RCV000052906] Chr9:72224348..77332127 [GRCh38]
Chr9:74839264..79947043 [GRCh37]
Chr9:74029084..79136863 [NCBI36]
Chr9:9q21.13-21.2		 pathogenic
GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1 copy number loss See cases [RCV000052907] Chr9:73706686..80370629 [GRCh38]
Chr9:76321602..82985544 [GRCh37]
Chr9:75511422..82175364 [NCBI36]
Chr9:9q21.13-21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_033305.2(VPS13A):c.6033G>A (p.Gly2011=) single nucleotide variant Malignant melanoma [RCV000068711] Chr9:77332051 [GRCh38]
Chr9:79946967 [GRCh37]
Chr9:79136787 [NCBI36]
Chr9:9q21.2		 not provided
NM_033305.2(VPS13A):c.6034G>T (p.Asp2012Tyr) single nucleotide variant Malignant melanoma [RCV000068712] Chr9:77332052 [GRCh38]
Chr9:79946968 [GRCh37]
Chr9:79136788 [NCBI36]
Chr9:9q21.2		 not provided
NM_033305.2(VPS13A):c.8044C>T (p.Pro2682Ser) single nucleotide variant Malignant melanoma [RCV000068713] Chr9:77359341 [GRCh38]
Chr9:79974257 [GRCh37]
Chr9:79164077 [NCBI36]
Chr9:9q21.2		 not provided
NM_033305.2(VPS13A):c.8089C>T (p.Gln2697Ter) single nucleotide variant Malignant melanoma [RCV000068714] Chr9:77359386 [GRCh38]
Chr9:79974302 [GRCh37]
Chr9:79164122 [NCBI36]
Chr9:9q21.2		 not provided
NM_033305.2(VPS13A):c.4810C>T (p.Gln1604Ter) single nucleotide variant Malignant melanoma [RCV000061959] Chr9:77316353 [GRCh38]
Chr9:79931269 [GRCh37]
Chr9:79121089 [NCBI36]
Chr9:9q21.2		 not provided
NM_033305.2(VPS13A):c.7317C>T (p.Leu2439=) single nucleotide variant Malignant melanoma [RCV000061960] Chr9:77351344 [GRCh38]
Chr9:79966260 [GRCh37]
Chr9:79156080 [NCBI36]
Chr9:9q21.2		 not provided
NM_033305.2(VPS13A):c.8158A>T (p.Ile2720Phe) single nucleotide variant Malignant melanoma [RCV000061961] Chr9:77360588 [GRCh38]
Chr9:79975504 [GRCh37]
Chr9:79165324 [NCBI36]
Chr9:9q21.2		 not provided
NM_033305.3(VPS13A):c.4813G>T (p.Val1605Leu) single nucleotide variant Inborn genetic diseases [RCV004482648] Chr9:77316356 [GRCh38]
Chr9:79931272 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.904C>T (p.Leu302Phe) single nucleotide variant Chorea-acanthocytosis [RCV000661942] Chr9:77220298 [GRCh38]
Chr9:79835214 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8521C>T (p.Gln2841Ter) single nucleotide variant Choreoacanthocytosis [RCV001294047] Chr9:77368104 [GRCh38]
Chr9:79983020 [GRCh37]
Chr9:9q21.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.2(chr9:76996739-77415046)x1 copy number loss See cases [RCV000134363] Chr9:76996739..77415046 [GRCh38]
Chr9:79611655..80029962 [GRCh37]
Chr9:78801475..79219782 [NCBI36]
Chr9:9q21.2		 uncertain significance
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.2(chr9:79816302-79908341)x3 copy number gain Breast ductal adenocarcinoma [RCV000207306] Chr9:79816302..79908341 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.9189+2545TGA[6] microsatellite Chorea-acanthocytosis [RCV000606875]|VPS13A-related disorder [RCV003905660]|not provided [RCV001726270] Chr9:77384632..77384646 [GRCh38]
Chr9:79999548..79999562 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_033305.3(VPS13A):c.2362T>C (p.Leu788=) single nucleotide variant not provided [RCV001493825] Chr9:77260159 [GRCh38]
Chr9:79875075 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=) single nucleotide variant Chorea-acanthocytosis [RCV001169679]|not provided [RCV000862029]|not specified [RCV000518216] Chr9:77321541 [GRCh38]
Chr9:79936457 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg) single nucleotide variant Chorea-acanthocytosis [RCV002481690]|not provided [RCV001851475]|not specified [RCV000517783] Chr9:77365473 [GRCh38]
Chr9:79980389 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) single nucleotide variant Chorea-acanthocytosis [RCV000301467]|not provided [RCV000860909] Chr9:77282239 [GRCh38]
Chr9:79897155 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=) single nucleotide variant Chorea-acanthocytosis [RCV000302242]|not provided [RCV000714176] Chr9:77321499 [GRCh38]
Chr9:79936415 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu) single nucleotide variant Chorea-acanthocytosis [RCV000320510] Chr9:77238278 [GRCh38]
Chr9:79853194 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*503C>A single nucleotide variant Chorea-acanthocytosis [RCV000321731] Chr9:77416509 [GRCh38]
Chr9:80031425 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) single nucleotide variant Chorea-acanthocytosis [RCV000345068]|not provided [RCV001447590] Chr9:77220321 [GRCh38]
Chr9:79835237 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) single nucleotide variant Chorea-acanthocytosis [RCV000368612]|VPS13A-related disorder [RCV003922655]|not provided [RCV000861046]|not specified [RCV001579965] Chr9:77353446 [GRCh38]
Chr9:79968362 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.9400-15A>C single nucleotide variant Chorea-acanthocytosis [RCV000368685]|not provided [RCV001556534]|not specified [RCV001579612] Chr9:77407518 [GRCh38]
Chr9:80022434 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) single nucleotide variant Chorea-acanthocytosis [RCV000268760]|VPS13A-related disorder [RCV003950307]|not provided [RCV000862936] Chr9:77295740 [GRCh38]
Chr9:79910656 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.159A>G (p.Val53=) single nucleotide variant Chorea-acanthocytosis [RCV000284403]|not provided [RCV002058809] Chr9:77201379 [GRCh38]
Chr9:79816295 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) single nucleotide variant Chorea-acanthocytosis [RCV000285403]|not provided [RCV000866529] Chr9:77344170 [GRCh38]
Chr9:79959086 [GRCh37]
Chr9:9q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) single nucleotide variant Chorea-acanthocytosis [RCV000322428]|not provided [RCV000860758]|not specified [RCV001726149] Chr9:77365476 [GRCh38]
Chr9:79980392 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.7155+14dup duplication Chorea-acanthocytosis [RCV000346672]|not provided [RCV001516815] Chr9:77344286..77344287 [GRCh38]
Chr9:79959202..79959203 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe) single nucleotide variant Chorea-acanthocytosis [RCV000370253] Chr9:77227429 [GRCh38]
Chr9:79842345 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.2(VPS13A):c.-232G>C single nucleotide variant Chorea-acanthocytosis [RCV000370575] Chr9:77177473 [GRCh38]
Chr9:79792389 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*1248_*1251dup duplication Chorea-acanthocytosis [RCV000397787] Chr9:77417252..77417253 [GRCh38]
Chr9:80032168..80032169 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3340-5_3340-3del microsatellite Chorea-acanthocytosis [RCV000303982] Chr9:77293333..77293335 [GRCh38]
Chr9:79908249..79908251 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro) single nucleotide variant Chorea-acanthocytosis [RCV000372204] Chr9:77317651 [GRCh38]
Chr9:79932567 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) single nucleotide variant Chorea-acanthocytosis [RCV000398345]|VPS13A-related disorder [RCV004755906]|not provided [RCV000513245] Chr9:77344222 [GRCh38]
Chr9:79959138 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.981C>T (p.Ala327=) single nucleotide variant Chorea-acanthocytosis [RCV000398542]|not provided [RCV001473622] Chr9:77220375 [GRCh38]
Chr9:79835291 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.*222G>A single nucleotide variant Chorea-acanthocytosis [RCV000270493]|not provided [RCV001683455] Chr9:77416228 [GRCh38]
Chr9:77416228..77416229 [GRCh38]
Chr9:80031144 [GRCh37]
Chr9:80031144..80031145 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2037+8C>A single nucleotide variant Chorea-acanthocytosis [RCV000287052]|not provided [RCV000860837]|not specified [RCV001579601] Chr9:77247403 [GRCh38]
Chr9:79862319 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=) single nucleotide variant Chorea-acanthocytosis [RCV000287482]|not provided [RCV000714182] Chr9:77369316 [GRCh38]
Chr9:79984232 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.*274AGA[1] microsatellite Chorea-acanthocytosis [RCV000325615]|not provided [RCV003430976] Chr9:77416279..77416281 [GRCh38]
Chr9:80031195..80031197 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) single nucleotide variant Chorea-acanthocytosis [RCV000325684]|not provided [RCV000863620] Chr9:77250183 [GRCh38]
Chr9:79865099 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) single nucleotide variant Chorea-acanthocytosis [RCV000347795]|Inborn genetic diseases [RCV002523807]|not provided [RCV001562536]|not specified [RCV000518783] Chr9:77252265 [GRCh38]
Chr9:79867181 [GRCh37]
Chr9:9q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=) single nucleotide variant Chorea-acanthocytosis [RCV000348397]|VPS13A-related disorder [RCV003912584]|not provided [RCV000993550] Chr9:77371099 [GRCh38]
Chr9:79986015 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_033305.3(VPS13A):c.*1024C>T single nucleotide variant Chorea-acanthocytosis [RCV000373033]|not provided [RCV004712767] Chr9:77417030 [GRCh38]
Chr9:80031946 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.-158G>C single nucleotide variant Chorea-acanthocytosis [RCV000373278] Chr9:77177547 [GRCh38]
Chr9:79792463 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) single nucleotide variant Chorea-acanthocytosis [RCV000373807]|not provided [RCV000714178]|not specified [RCV001579921] Chr9:77339629 [GRCh38]
Chr9:79954545 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) single nucleotide variant Chorea-acanthocytosis [RCV000399518]|not provided [RCV000862888]|not specified [RCV000517325] Chr9:77318570 [GRCh38]
Chr9:79933486 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.295_297del (p.Asp99del) deletion Chorea-acanthocytosis [RCV000399932] Chr9:77205987..77205989 [GRCh38]
Chr9:79820903..79820905 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser) single nucleotide variant Chorea-acanthocytosis [RCV000400300] Chr9:77345084 [GRCh38]
Chr9:79960000 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*81A>G single nucleotide variant Chorea-acanthocytosis [RCV000400748] Chr9:77416087 [GRCh38]
Chr9:80031003 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=) single nucleotide variant Chorea-acanthocytosis [RCV000271299]|not provided [RCV000860839] Chr9:77321718 [GRCh38]
Chr9:79936634 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) single nucleotide variant Chorea-acanthocytosis [RCV000287997]|VPS13A-related disorder [RCV003912582]|not provided [RCV000518625] Chr9:77219974 [GRCh38]
Chr9:79834890 [GRCh37]
Chr9:9q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) single nucleotide variant Chorea-acanthocytosis [RCV000306726]|Inborn genetic diseases [RCV002523812]|not provided [RCV000866730] Chr9:77321702 [GRCh38]
Chr9:79936618 [GRCh37]
Chr9:9q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu) single nucleotide variant Chorea-acanthocytosis [RCV000326089] Chr9:77369394 [GRCh38]
Chr9:79984310 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3813-6T>C single nucleotide variant Chorea-acanthocytosis [RCV000326144]|not provided [RCV003660798] Chr9:77302909 [GRCh38]
Chr9:79917825 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3961-6del deletion Chorea-acanthocytosis [RCV000272365]|not provided [RCV001613241] Chr9:77307930 [GRCh38]
Chr9:79922846 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala) single nucleotide variant Chorea-acanthocytosis [RCV000351639]|not provided [RCV002523808] Chr9:77273292 [GRCh38]
Chr9:79888208 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*565G>A single nucleotide variant Chorea-acanthocytosis [RCV000376375]|not provided [RCV004712765] Chr9:77416571 [GRCh38]
Chr9:80031487 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.101-14T>G single nucleotide variant Chorea-acanthocytosis [RCV000376684]|not provided [RCV002523805] Chr9:77199931 [GRCh38]
Chr9:79814847 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg) single nucleotide variant Chorea-acanthocytosis [RCV000377447] Chr9:77340430 [GRCh38]
Chr9:79955346 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu) single nucleotide variant Chorea-acanthocytosis [RCV000290460] Chr9:77252239 [GRCh38]
Chr9:79867155 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=) single nucleotide variant Chorea-acanthocytosis [RCV000308178]|not provided [RCV000860757] Chr9:77344281 [GRCh38]
Chr9:79959197 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=) single nucleotide variant Chorea-acanthocytosis [RCV000329825]|not provided [RCV000861722] Chr9:77308025 [GRCh38]
Chr9:79922941 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.*1186A>G single nucleotide variant Chorea-acanthocytosis [RCV000351792] Chr9:77417192 [GRCh38]
Chr9:80032108 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=) single nucleotide variant Chorea-acanthocytosis [RCV000352523]|not provided [RCV000860974] Chr9:77315349 [GRCh38]
Chr9:79930265 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.1900+9C>T single nucleotide variant Chorea-acanthocytosis [RCV000379213]|not provided [RCV000876405] Chr9:77238395 [GRCh38]
Chr9:79853311 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His) single nucleotide variant Chorea-acanthocytosis [RCV000400961]|not provided [RCV000762563] Chr9:77405902 [GRCh38]
Chr9:80020818 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser) single nucleotide variant Chorea-acanthocytosis [RCV000274927]|not provided [RCV002524606] Chr9:77332092 [GRCh38]
Chr9:79947008 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=) single nucleotide variant Chorea-acanthocytosis [RCV000291092]|not provided [RCV001865252] Chr9:77370437 [GRCh38]
Chr9:79985353 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) single nucleotide variant Chorea-acanthocytosis [RCV000310297]|VPS13A-related disorder [RCV003912583]|not provided [RCV000710282]|not specified [RCV001729570] Chr9:77323120 [GRCh38]
Chr9:79938036 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.*133CAAA[1] microsatellite Chorea-acanthocytosis [RCV000310369] Chr9:77416136..77416139 [GRCh38]
Chr9:80031052..80031055 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7806+6A>G single nucleotide variant Chorea-acanthocytosis [RCV000353960]|not provided [RCV000860886] Chr9:77356873 [GRCh38]
Chr9:79971789 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2964+13A>G single nucleotide variant Chorea-acanthocytosis [RCV000355161]|not provided [RCV001643118] Chr9:77281939 [GRCh38]
Chr9:79896855 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala) single nucleotide variant Chorea-acanthocytosis [RCV000379392]|not provided [RCV000862625] Chr9:77366751 [GRCh38]
Chr9:79981667 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn) single nucleotide variant Chorea-acanthocytosis [RCV000401484]|not provided [RCV000860756] Chr9:77321663 [GRCh38]
Chr9:79936579 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2667+11C>T single nucleotide variant Chorea-acanthocytosis [RCV000402288]|not provided [RCV001579642] Chr9:77275663 [GRCh38]
Chr9:79890579 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.6379-12T>G single nucleotide variant Chorea-acanthocytosis [RCV000259197]|not provided [RCV002058811] Chr9:77339504 [GRCh38]
Chr9:79954420 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.1453-15C>T single nucleotide variant Chorea-acanthocytosis [RCV000259267]|not provided [RCV002523806] Chr9:77228107 [GRCh38]
Chr9:79843023 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.989+28del deletion Chorea-acanthocytosis [RCV000310204]|not provided [RCV004696164] Chr9:77220397 [GRCh38]
Chr9:79835313 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys) single nucleotide variant Chorea-acanthocytosis [RCV000332391]|Inborn genetic diseases [RCV002523814]|not provided [RCV002523813] Chr9:77337290 [GRCh38]
Chr9:79952206 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg) single nucleotide variant Chorea-acanthocytosis [RCV000355354] Chr9:77238150 [GRCh38]
Chr9:79853066 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2170+13T>C single nucleotide variant Chorea-acanthocytosis [RCV000382598]|not provided [RCV001529454] Chr9:77250242 [GRCh38]
Chr9:79865158 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.*1378C>A single nucleotide variant Chorea-acanthocytosis [RCV000293418]|not provided [RCV004712768] Chr9:77417384 [GRCh38]
Chr9:80032300 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=) single nucleotide variant Chorea-acanthocytosis [RCV000293986]|not provided [RCV000860755] Chr9:77260188 [GRCh38]
Chr9:79875104 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala) single nucleotide variant Chorea-acanthocytosis [RCV000311510] Chr9:77345090 [GRCh38]
Chr9:79960006 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=) single nucleotide variant Chorea-acanthocytosis [RCV000357512]|not provided [RCV002058812] Chr9:77360587 [GRCh38]
Chr9:79975503 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) single nucleotide variant Chorea-acanthocytosis [RCV000383128]|not provided [RCV000861071]|not specified [RCV001579338] Chr9:77370265 [GRCh38]
Chr9:79985181 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.3961-6dup duplication Chorea-acanthocytosis [RCV000383196]|not provided [RCV001683454] Chr9:77307929..77307930 [GRCh38]
Chr9:79922845..79922846 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His) single nucleotide variant Chorea-acanthocytosis [RCV000261281]|not provided [RCV002523818] Chr9:77357696 [GRCh38]
Chr9:79972612 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.2(VPS13A):c.-183G>C single nucleotide variant Chorea-acanthocytosis [RCV000277646]|not provided [RCV001672736] Chr9:77177522 [GRCh38]
Chr9:79792438 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg) single nucleotide variant Chorea-acanthocytosis [RCV000313363] Chr9:77226544 [GRCh38]
Chr9:79841460 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val) single nucleotide variant Chorea-acanthocytosis [RCV000335167] Chr9:77403239 [GRCh38]
Chr9:80018155 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=) single nucleotide variant Chorea-acanthocytosis [RCV000358582]|not provided [RCV001521364] Chr9:77282264 [GRCh38]
Chr9:79897180 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His) single nucleotide variant Chorea-acanthocytosis [RCV000407055]|not provided [RCV002523816] Chr9:77353479 [GRCh38]
Chr9:79968395 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) single nucleotide variant Chorea-acanthocytosis [RCV000262961]|not provided [RCV000714171]|not specified [RCV001643117] Chr9:77238164 [GRCh38]
Chr9:79853080 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.*1095A>G single nucleotide variant Chorea-acanthocytosis [RCV000278536] Chr9:77417101 [GRCh38]
Chr9:80032017 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys) single nucleotide variant Chorea-acanthocytosis [RCV000295353]|not provided [RCV001523113] Chr9:77315309 [GRCh38]
Chr9:79930225 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=) single nucleotide variant Chorea-acanthocytosis [RCV000314109]|not provided [RCV001522143] Chr9:77405970 [GRCh38]
Chr9:80020886 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser) single nucleotide variant Chorea-acanthocytosis [RCV000337270]|Inborn genetic diseases [RCV002523811]|not provided [RCV002523810] Chr9:77318257 [GRCh38]
Chr9:79933173 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) single nucleotide variant Chorea-acanthocytosis [RCV000361066]|not provided [RCV000861599]|not specified [RCV001579361] Chr9:77295679 [GRCh38]
Chr9:79910595 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn) single nucleotide variant Chorea-acanthocytosis [RCV000386714]|Inborn genetic diseases [RCV002523809]|not provided [RCV000714175] Chr9:77314642 [GRCh38]
Chr9:79929558 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn) single nucleotide variant Chorea-acanthocytosis [RCV000280013]|not provided [RCV000862387] Chr9:77317669 [GRCh38]
Chr9:79932585 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) single nucleotide variant Chorea-acanthocytosis [RCV000280153]|not provided [RCV000860759]|not specified [RCV001726150] Chr9:77382048 [GRCh38]
Chr9:79996964 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg) single nucleotide variant Chorea-acanthocytosis [RCV000315446]|not provided [RCV002523817] Chr9:77356776 [GRCh38]
Chr9:79971692 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6880-6dup duplication Chorea-acanthocytosis [RCV000339158]|not provided [RCV001540198] Chr9:77340389..77340390 [GRCh38]
Chr9:79955305..79955306 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.*279A>T single nucleotide variant Chorea-acanthocytosis [RCV000361386] Chr9:77416285 [GRCh38]
Chr9:80031201 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6378+15A>T single nucleotide variant Chorea-acanthocytosis [RCV000388863]|not provided [RCV001643119] Chr9:77337552 [GRCh38]
Chr9:79952468 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.-150C>T single nucleotide variant Chorea-acanthocytosis [RCV000281094] Chr9:77177555 [GRCh38]
Chr9:79792471 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2718A>G (p.Val906=) single nucleotide variant Chorea-acanthocytosis [RCV000297944]|not provided [RCV001521363] Chr9:77276115 [GRCh38]
Chr9:79891031 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.2(VPS13A):c.-181G>A single nucleotide variant Chorea-acanthocytosis [RCV000316336]|not provided [RCV001653765] Chr9:77177524 [GRCh38]
Chr9:79792440 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) single nucleotide variant Chorea-acanthocytosis [RCV000316893]|not provided [RCV000861441] Chr9:77339547 [GRCh38]
Chr9:79954463 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.1596-10_1596-8del deletion Chorea-acanthocytosis [RCV000316964]|not provided [RCV003556372] Chr9:77237985..77237987 [GRCh38]
Chr9:79852901..79852903 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) single nucleotide variant Chorea-acanthocytosis [RCV000340749]|not provided [RCV000869576] Chr9:77321641 [GRCh38]
Chr9:79936557 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn) single nucleotide variant Chorea-acanthocytosis [RCV000363790]|not provided [RCV004791434] Chr9:77321711 [GRCh38]
Chr9:79936627 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*185A>G single nucleotide variant Chorea-acanthocytosis [RCV000365011] Chr9:77416191 [GRCh38]
Chr9:80031107 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8212-15G>A single nucleotide variant Chorea-acanthocytosis [RCV000265073]|not provided [RCV002058813] Chr9:77365445 [GRCh38]
Chr9:79980361 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=) single nucleotide variant Chorea-acanthocytosis [RCV000281748]|not provided [RCV002523815] Chr9:77339728 [GRCh38]
Chr9:79954644 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.*774_*776del deletion Chorea-acanthocytosis [RCV000282073] Chr9:77416778..77416780 [GRCh38]
Chr9:80031694..80031696 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*942C>T single nucleotide variant Chorea-acanthocytosis [RCV000318465]|not provided [RCV004712766] Chr9:77416948 [GRCh38]
Chr9:80031864 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.283+20del deletion Chorea-acanthocytosis [RCV000341718]|not provided [RCV002058810] Chr9:77205422 [GRCh38]
Chr9:79820338 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg) single nucleotide variant Chorea-acanthocytosis [RCV000391893] Chr9:77221256 [GRCh38]
Chr9:79836172 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) single nucleotide variant Chorea-acanthocytosis [RCV000392188]|not provided [RCV001509816]|not specified [RCV001579927] Chr9:77282201 [GRCh38]
Chr9:79897117 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) single nucleotide variant Chorea-acanthocytosis [RCV000266201]|not provided [RCV000864063] Chr9:77283593 [GRCh38]
Chr9:79898509 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.*481G>A single nucleotide variant Chorea-acanthocytosis [RCV000266660] Chr9:77416487 [GRCh38]
Chr9:80031403 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=) single nucleotide variant Chorea-acanthocytosis [RCV000318802]|not provided [RCV000877125] Chr9:77360570 [GRCh38]
Chr9:79975486 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.-148C>T single nucleotide variant Chorea-acanthocytosis [RCV000319681] Chr9:77177557 [GRCh38]
Chr9:79792473 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) single nucleotide variant Chorea-acanthocytosis [RCV000343290]|VPS13A-related disorder [RCV003957876]|not provided [RCV001416506] Chr9:77344204 [GRCh38]
Chr9:79959120 [GRCh37]
Chr9:9q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=) single nucleotide variant Chorea-acanthocytosis [RCV000367200]|not provided [RCV001523112] Chr9:77221215 [GRCh38]
Chr9:79836131 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=) single nucleotide variant Chorea-acanthocytosis [RCV000367276]|not provided [RCV001510320] Chr9:77332045 [GRCh38]
Chr9:79946961 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) single nucleotide variant Chorea-acanthocytosis [RCV000393264]|not provided [RCV000714184]|not specified [RCV001580005] Chr9:77371141 [GRCh38]
Chr9:79986057 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser) single nucleotide variant Chorea-acanthocytosis [RCV000394082] Chr9:77252304 [GRCh38]
Chr9:79867220 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs) microsatellite Chorea-acanthocytosis [RCV003133278]|not provided [RCV000489660] Chr9:77407560..77407561 [GRCh38]
Chr9:80022476..80022477 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_033305.3(VPS13A):c.4115-62G>T single nucleotide variant not provided [RCV001548220] Chr9:77313930 [GRCh38]
Chr9:79928846 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2170+68T>G single nucleotide variant not provided [RCV001567927] Chr9:77250297 [GRCh38]
Chr9:79865213 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3448A>G (p.Asn1150Asp) single nucleotide variant Inborn genetic diseases [RCV003266378] Chr9:77293449 [GRCh38]
Chr9:79908365 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=) single nucleotide variant Chorea-acanthocytosis [RCV001277447]|not provided [RCV001494076] Chr9:77314062 [GRCh38]
Chr9:79928978 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.4765G>A (p.Gly1589Ser) single nucleotide variant Chorea-acanthocytosis [RCV001277449] Chr9:77316308 [GRCh38]
Chr9:79931224 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr) single nucleotide variant Chorea-acanthocytosis [RCV001277454] Chr9:77337359 [GRCh38]
Chr9:79952275 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4956+1G>A single nucleotide variant Abnormality of the nervous system [RCV001814164]|not provided [RCV000488994] Chr9:77317699 [GRCh38]
Chr9:79932615 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_033305.3(VPS13A):c.4156C>T (p.Arg1386Cys) single nucleotide variant Inborn genetic diseases [RCV003244075] Chr9:77314033 [GRCh38]
Chr9:79928949 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.787G>A (p.Val263Met) single nucleotide variant Chorea-acanthocytosis [RCV001165490]|not provided [RCV000516846] Chr9:77219986 [GRCh38]
Chr9:79834902 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) single nucleotide variant Chorea-acanthocytosis [RCV001165691]|VPS13A-related disorder [RCV003915463]|not provided [RCV000517754] Chr9:77323215 [GRCh38]
Chr9:79938131 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.6880-19G>C single nucleotide variant Chorea-acanthocytosis [RCV000611856]|not provided [RCV001551031]|not specified [RCV001579724] Chr9:77340385 [GRCh38]
Chr9:79955301 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) single nucleotide variant Chorea-acanthocytosis [RCV000612749]|VPS13A-related disorder [RCV003917976]|not provided [RCV000860854]|not specified [RCV001579767] Chr9:77405958 [GRCh38]
Chr9:77405958..77405959 [GRCh38]
Chr9:80020874 [GRCh37]
Chr9:80020874..80020875 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2701del (p.Cys901fs) deletion not provided [RCV000598658] Chr9:77276097 [GRCh38]
Chr9:79891013 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val) single nucleotide variant Chorea-acanthocytosis [RCV001169607]|not provided [RCV001859098] Chr9:77293467 [GRCh38]
Chr9:79908383 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) single nucleotide variant Chorea-acanthocytosis [RCV000605550]|not provided [RCV000517261]|not specified [RCV001580041] Chr9:77316303 [GRCh38]
Chr9:79931219 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=) single nucleotide variant Chorea-acanthocytosis [RCV001169748]|not provided [RCV000517725] Chr9:77344179 [GRCh38]
Chr9:79959095 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser) single nucleotide variant Chorea-acanthocytosis [RCV001169815] Chr9:77382026 [GRCh38]
Chr9:79996942 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4115-197A>T single nucleotide variant not provided [RCV001545264] Chr9:77313795 [GRCh38]
Chr9:79928711 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val) single nucleotide variant Chorea-acanthocytosis [RCV001169606]|Inborn genetic diseases [RCV004032914] Chr9:77293425 [GRCh38]
Chr9:79908341 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8326-311C>G single nucleotide variant not provided [RCV001564640] Chr9:77366416 [GRCh38]
Chr9:79981332 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9311A>G (p.Gln3104Arg) single nucleotide variant not specified [RCV000518684] Chr9:77405899 [GRCh38]
Chr9:80020815 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter) single nucleotide variant Chorea-acanthocytosis [RCV001833496]|not provided [RCV000413108] Chr9:77302991 [GRCh38]
Chr9:79917907 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter) single nucleotide variant Chorea-acanthocytosis [RCV001833500]|not provided [RCV000414210] Chr9:77219998 [GRCh38]
Chr9:79834914 [GRCh37]
Chr9:9q21.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_033305.3(VPS13A):c.8209G>T (p.Glu2737Ter) single nucleotide variant not provided [RCV000440207] Chr9:77360639 [GRCh38]
Chr9:79975555 [GRCh37]
Chr9:9q21.2		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr) single nucleotide variant Chorea-acanthocytosis [RCV001830587]|Inborn genetic diseases [RCV002532965]|not provided [RCV000714179] Chr9:77340188 [GRCh38]
Chr9:79955104 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.1150G>A (p.Val384Met) single nucleotide variant Inborn genetic diseases [RCV002532964]|not provided [RCV000714170] Chr9:77221345 [GRCh38]
Chr9:79836261 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.6140G>T (p.Cys2047Phe) single nucleotide variant Inborn genetic diseases [RCV003295082] Chr9:77337299 [GRCh38]
Chr9:79952215 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4956+7T>G single nucleotide variant not provided [RCV002087439] Chr9:77317705 [GRCh38]
Chr9:79932621 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8509A>G (p.Thr2837Ala) single nucleotide variant Inborn genetic diseases [RCV003304514] Chr9:77368092 [GRCh38]
Chr9:79983008 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val) single nucleotide variant Chorea-acanthocytosis [RCV000600465]|VPS13A-related disorder [RCV003905659]|not provided [RCV000861666] Chr9:77353445 [GRCh38]
Chr9:79968361 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.1750A>G (p.Ile584Val) single nucleotide variant Inborn genetic diseases [RCV002528275]|not provided [RCV000523408] Chr9:77238156 [GRCh38]
Chr9:79853072 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8815G>A (p.Glu2939Lys) single nucleotide variant Inborn genetic diseases [RCV003256893] Chr9:77370486 [GRCh38]
Chr9:79985402 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4619C>T (p.Ala1540Val) single nucleotide variant Inborn genetic diseases [RCV003246586] Chr9:77315459 [GRCh38]
Chr9:79930375 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=) single nucleotide variant Chorea-acanthocytosis [RCV001167155]|not provided [RCV000714172] Chr9:77276211 [GRCh38]
Chr9:79891127 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) single nucleotide variant Chorea-acanthocytosis [RCV001169604]|not provided [RCV000714173] Chr9:77293357 [GRCh38]
Chr9:79908273 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=) single nucleotide variant not provided [RCV000714180] Chr9:77344173 [GRCh38]
Chr9:79959089 [GRCh37]
Chr9:9q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.9189+2545TGA[9] microsatellite Chorea-acanthocytosis [RCV000668054]|VPS13A-related disorder [RCV003938020] Chr9:77384632..77384637 [GRCh38]
Chr9:79999548..79999553 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5117_5122del (p.Thr1706_Glu1707del) deletion Chorea-acanthocytosis [RCV000668366]|not provided [RCV002530743] Chr9:77318390..77318395 [GRCh38]
Chr9:79933306..79933311 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.2(chr9:79939063-80037901)x1 copy number loss not provided [RCV000683073] Chr9:79939063..80037901 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1 copy number loss not provided [RCV000683165] Chr9:74534790..84014155 [GRCh37]
Chr9:9q21.13-21.31		 pathogenic
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) single nucleotide variant Chorea-acanthocytosis [RCV001165690]|not provided [RCV000714177] Chr9:77323153 [GRCh38]
Chr9:79938069 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val) single nucleotide variant Chorea-acanthocytosis [RCV001825431]|not provided [RCV000714181] Chr9:77356719 [GRCh38]
Chr9:79971635 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.9078-4708_9078-4707del deletion primray hypomagnesemia with secondary hypocalcemia [RCV000709701] Chr9:77377268..77377269 [GRCh38]
Chr9:79992184..79992185 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val) single nucleotide variant Chorea-acanthocytosis [RCV001825430]|not provided [RCV000714174] Chr9:77295767 [GRCh38]
Chr9:79910683 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8712A>G (p.Leu2904=) single nucleotide variant not provided [RCV000714183] Chr9:77370301 [GRCh38]
Chr9:79985217 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4413-44C>G single nucleotide variant not provided [RCV001547147] Chr9:77315209 [GRCh38]
Chr9:79930125 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2037+191T>C single nucleotide variant Chorea-acanthocytosis [RCV001543938]|not provided [RCV001694069] Chr9:77247586 [GRCh38]
Chr9:79862502 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3508-44G>T single nucleotide variant Chorea-acanthocytosis [RCV001544013]|not provided [RCV001638148] Chr9:77295498 [GRCh38]
Chr9:79910414 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter) single nucleotide variant Chorea-acanthocytosis [RCV001003343]|not provided [RCV002551702] Chr9:77206031 [GRCh38]
Chr9:79820947 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.6778C>G (p.Gln2260Glu) single nucleotide variant not provided [RCV003104212] Chr9:77340181 [GRCh38]
Chr9:79955097 [GRCh37]
Chr9:9q21.2		 uncertain significance
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_033305.3(VPS13A):c.8105+81G>A single nucleotide variant Chorea-acanthocytosis [RCV001543761]|not provided [RCV001685475] Chr9:77359483 [GRCh38]
Chr9:79974399 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1901-215G>A single nucleotide variant Chorea-acanthocytosis [RCV001543937]|not provided [RCV001694068] Chr9:77247044 [GRCh38]
Chr9:79861960 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3960+193T>G single nucleotide variant not provided [RCV001539805] Chr9:77303255 [GRCh38]
Chr9:79918171 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3118+264A>T single nucleotide variant not provided [RCV001571081] Chr9:77282538 [GRCh38]
Chr9:79897454 [GRCh37]
Chr9:9q21.2		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.2(chr9:79816489-80020818)x3 copy number gain not provided [RCV000748481] Chr9:79816489..80020818 [GRCh37]
Chr9:9q21.2		 benign
GRCh37/hg19 9q21.2(chr9:79818630-79980392)x3 copy number gain not provided [RCV000748482] Chr9:79818630..79980392 [GRCh37]
Chr9:9q21.2		 benign
GRCh37/hg19 9q21.2(chr9:79818630-80018236)x3 copy number gain not provided [RCV000748483] Chr9:79818630..80018236 [GRCh37]
Chr9:9q21.2		 benign
GRCh37/hg19 9q21.2(chr9:79818630-80031144)x3 copy number gain not provided [RCV000748484] Chr9:79818630..80031144 [GRCh37]
Chr9:9q21.2		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=) single nucleotide variant Chorea-acanthocytosis [RCV001274094]|not provided [RCV000871179] Chr9:77323206 [GRCh38]
Chr9:79938122 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2541A>G (p.Pro847=) single nucleotide variant not provided [RCV000873873] Chr9:77275526 [GRCh38]
Chr9:79890442 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5416-116T>C single nucleotide variant not provided [RCV001581727] Chr9:77321053 [GRCh38]
Chr9:79935969 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2428-179T>G single nucleotide variant not provided [RCV001644435] Chr9:77273101 [GRCh38]
Chr9:79888017 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.5314-324dup duplication not provided [RCV001724712] Chr9:77319238..77319239 [GRCh38]
Chr9:79934154..79934155 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8668-21A>G single nucleotide variant not provided [RCV001583231] Chr9:77370236 [GRCh38]
Chr9:79985152 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile) single nucleotide variant Chorea-acanthocytosis [RCV001274101]|Inborn genetic diseases [RCV004029300]|VPS13A-related disorder [RCV003908162]|not provided [RCV000861596]|not specified [RCV003396496] Chr9:77339678 [GRCh38]
Chr9:79954594 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.9189+2821T>C single nucleotide variant not provided [RCV001724547] Chr9:77384908 [GRCh38]
Chr9:79999824 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1453-133A>G single nucleotide variant not provided [RCV001564171] Chr9:77227989 [GRCh38]
Chr9:79842905 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2038-146G>A single nucleotide variant not provided [RCV001709022] Chr9:77249951 [GRCh38]
Chr9:79864867 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7156-301G>A single nucleotide variant not provided [RCV001565214] Chr9:77344708 [GRCh38]
Chr9:79959624 [GRCh37]
Chr9:9q21.2		 likely benign
NC_000009.12:g.77177159G>C single nucleotide variant not provided [RCV001666274] Chr9:77177159 [GRCh38]
Chr9:79792075 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2288+210A>C single nucleotide variant not provided [RCV001612689] Chr9:77252562 [GRCh38]
Chr9:79867478 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1358-45A>C single nucleotide variant not provided [RCV001586206] Chr9:77227346 [GRCh38]
Chr9:79842262 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3813-171C>G single nucleotide variant Chorea-acanthocytosis [RCV001544014]|not provided [RCV001685484] Chr9:77302744 [GRCh38]
Chr9:79917660 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.6379-27G>T single nucleotide variant Chorea-acanthocytosis [RCV001544016]|not provided [RCV001694074] Chr9:77339489 [GRCh38]
Chr9:79954405 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7027-54A>G single nucleotide variant Chorea-acanthocytosis [RCV001544018]|not provided [RCV001658273] Chr9:77344099 [GRCh38]
Chr9:79959015 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7289+174G>A single nucleotide variant not provided [RCV001535158] Chr9:77345316 [GRCh38]
Chr9:79960232 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1098A>G (p.Lys366=) single nucleotide variant not provided [RCV000873050] Chr9:77221293 [GRCh38]
Chr9:79836209 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) single nucleotide variant Chorea-acanthocytosis [RCV001276372]|not provided [RCV000860774] Chr9:77318325 [GRCh38]
Chr9:79933241 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3507+235T>A single nucleotide variant not provided [RCV001666531] Chr9:77293743 [GRCh38]
Chr9:79908659 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=) single nucleotide variant Chorea-acanthocytosis [RCV001169680]|not provided [RCV000860838] Chr9:77321589 [GRCh38]
Chr9:79936505 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.6378+289T>C single nucleotide variant not provided [RCV001566502] Chr9:77337826 [GRCh38]
Chr9:79952742 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.283+206T>G single nucleotide variant not provided [RCV001586386] Chr9:77205614 [GRCh38]
Chr9:79820530 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8106-250T>C single nucleotide variant not provided [RCV001567607] Chr9:77360286 [GRCh38]
Chr9:79975202 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6358A>T (p.Lys2120Ter) single nucleotide variant not provided [RCV000760595] Chr9:77337517 [GRCh38]
Chr9:79952433 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.9475-97A>T single nucleotide variant not provided [RCV001577231] Chr9:77415859 [GRCh38]
Chr9:80030775 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2427+150dup duplication not provided [RCV001577290] Chr9:77260351..77260352 [GRCh38]
Chr9:79875267..79875268 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8553+31G>C single nucleotide variant Chorea-acanthocytosis [RCV001543762]|not provided [RCV001638140] Chr9:77368167 [GRCh38]
Chr9:79983083 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9400-34A>T single nucleotide variant Chorea-acanthocytosis [RCV001543765]|not provided [RCV001615267] Chr9:77407499 [GRCh38]
Chr9:80022415 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2512+116A>G single nucleotide variant Chorea-acanthocytosis [RCV001544009]|not provided [RCV001619961] Chr9:77273480 [GRCh38]
Chr9:79888396 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3508-51A>G single nucleotide variant Chorea-acanthocytosis [RCV001544012]|not provided [RCV001673172] Chr9:77295491 [GRCh38]
Chr9:79910407 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.556-94G>A single nucleotide variant not provided [RCV001647716] Chr9:77212875 [GRCh38]
Chr9:79827791 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2289-234A>G single nucleotide variant not provided [RCV001574148] Chr9:77259852 [GRCh38]
Chr9:79874768 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6379-28dup duplication not provided [RCV001581872] Chr9:77339484..77339485 [GRCh38]
Chr9:79954400..79954401 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe) single nucleotide variant Chorea-acanthocytosis [RCV001167284] Chr9:77337343 [GRCh38]
Chr9:79952259 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.145-206A>G single nucleotide variant not provided [RCV001567619] Chr9:77201159 [GRCh38]
Chr9:79816075 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.697-236T>C single nucleotide variant not provided [RCV001681048] Chr9:77214093 [GRCh38]
Chr9:79829009 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=) single nucleotide variant Chorea-acanthocytosis [RCV001167091]|not provided [RCV001406980] Chr9:77221350 [GRCh38]
Chr9:79836266 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val) single nucleotide variant Chorea-acanthocytosis [RCV001276370]|not provided [RCV000993546] Chr9:77295671 [GRCh38]
Chr9:79910587 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8830A>G (p.Lys2944Glu) single nucleotide variant not provided [RCV000993549] Chr9:77370501 [GRCh38]
Chr9:79985417 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3813-207G>T single nucleotide variant not provided [RCV001576053] Chr9:77302708 [GRCh38]
Chr9:79917624 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.385+250_385+251insATATA insertion not provided [RCV001665991] Chr9:77206329..77206330 [GRCh38]
Chr9:79821245..79821246 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.4863+115T>C single nucleotide variant not provided [RCV001550089] Chr9:77316521 [GRCh38]
Chr9:79931437 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9189+2780A>G single nucleotide variant not provided [RCV001669049] Chr9:77384867 [GRCh38]
Chr9:79999783 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8908-101A>G single nucleotide variant not provided [RCV001568832] Chr9:77370789 [GRCh38]
Chr9:79985705 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9475-5C>T single nucleotide variant not provided [RCV000866057] Chr9:77415951 [GRCh38]
Chr9:80030867 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2889G>A (p.Thr963=) single nucleotide variant Chorea-acanthocytosis [RCV001830879]|not provided [RCV000864814] Chr9:77280223 [GRCh38]
Chr9:79895139 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.621C>T (p.Ile207=) single nucleotide variant Chorea-acanthocytosis [RCV001276360]|not provided [RCV000948519] Chr9:77213239 [GRCh38]
Chr9:79828155 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1165T>C (p.Leu389=) single nucleotide variant Chorea-acanthocytosis [RCV001830905]|not provided [RCV000868799] Chr9:77225929 [GRCh38]
Chr9:79840845 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6840T>C (p.His2280=) single nucleotide variant Chorea-acanthocytosis [RCV001167877]|VPS13A-related disorder [RCV003918402]|not provided [RCV000868327] Chr9:77340243 [GRCh38]
Chr9:79955159 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3372C>T (p.Ser1124=) single nucleotide variant not provided [RCV000864337] Chr9:77293373 [GRCh38]
Chr9:79908289 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2304A>G (p.Gly768=) single nucleotide variant Chorea-acanthocytosis [RCV001832285]|not provided [RCV000981974] Chr9:77260101 [GRCh38]
Chr9:79875017 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7950A>C (p.Ile2650=) single nucleotide variant not provided [RCV000982025] Chr9:77357835 [GRCh38]
Chr9:79972751 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3118+8T>G single nucleotide variant not provided [RCV000928503] Chr9:77282282 [GRCh38]
Chr9:79897198 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4539T>C (p.Phe1513=) single nucleotide variant Chorea-acanthocytosis [RCV001274083]|not provided [RCV000866499] Chr9:77315379 [GRCh38]
Chr9:79930295 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=) single nucleotide variant Chorea-acanthocytosis [RCV001274095]|not provided [RCV000866688] Chr9:77332036 [GRCh38]
Chr9:79946952 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.1617A>G (p.Ser539=) single nucleotide variant not provided [RCV000867575] Chr9:77238023 [GRCh38]
Chr9:79852939 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=) single nucleotide variant Chorea-acanthocytosis [RCV001274087]|VPS13A-related disorder [RCV003908252]|not provided [RCV000869069] Chr9:77317692 [GRCh38]
Chr9:79932608 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.7652+7T>G single nucleotide variant not provided [RCV000892078] Chr9:77353648 [GRCh38]
Chr9:79968564 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2499T>C (p.Ser833=) single nucleotide variant Chorea-acanthocytosis [RCV001271523]|not provided [RCV000870277] Chr9:77273351 [GRCh38]
Chr9:79888267 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.755-4T>C single nucleotide variant not provided [RCV000943998] Chr9:77219950 [GRCh38]
Chr9:79834866 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3660C>T (p.Ile1220=) single nucleotide variant not provided [RCV000866858] Chr9:77295694 [GRCh38]
Chr9:79910610 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7821T>C (p.Pro2607=) single nucleotide variant Chorea-acanthocytosis [RCV001836017]|not provided [RCV000924138] Chr9:77357706 [GRCh38]
Chr9:79972622 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.516G>A (p.Pro172=) single nucleotide variant Chorea-acanthocytosis [RCV001271512]|not provided [RCV000864706] Chr9:77210636 [GRCh38]
Chr9:79825552 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8145A>G (p.Leu2715=) single nucleotide variant not provided [RCV000982392] Chr9:77360575 [GRCh38]
Chr9:79975491 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1581A>G (p.Gly527=) single nucleotide variant Chorea-acanthocytosis [RCV001836019]|not provided [RCV000926010] Chr9:77228250 [GRCh38]
Chr9:79843166 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6060T>C (p.Pro2020=) single nucleotide variant not provided [RCV000914932] Chr9:77332078 [GRCh38]
Chr9:79946994 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1413C>A (p.Gly471=) single nucleotide variant not provided [RCV000983202] Chr9:77227446 [GRCh38]
Chr9:79842362 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7188C>T (p.Ala2396=) single nucleotide variant Chorea-acanthocytosis [RCV001274596]|not provided [RCV000865633] Chr9:77345041 [GRCh38]
Chr9:79959957 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=) single nucleotide variant Chorea-acanthocytosis [RCV001274081]|not provided [RCV000865014] Chr9:77295838 [GRCh38]
Chr9:79910754 [GRCh37]
Chr9:9q21.2		 benign|conflicting interpretations of pathogenicity
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=) single nucleotide variant Chorea-acanthocytosis [RCV001169677]|not provided [RCV000865041] Chr9:77321285 [GRCh38]
Chr9:79936201 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.9078-7C>T single nucleotide variant Chorea-acanthocytosis [RCV001169814]|not provided [RCV000866942] Chr9:77381969 [GRCh38]
Chr9:79996885 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.303A>G (p.Leu101=) single nucleotide variant not provided [RCV000868637] Chr9:77205997 [GRCh38]
Chr9:79820913 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.588T>C (p.His196=) single nucleotide variant Chorea-acanthocytosis [RCV001271513]|not provided [RCV000864948] Chr9:77213001 [GRCh38]
Chr9:79827917 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_033305.3(VPS13A):c.2247A>G (p.Glu749=) single nucleotide variant not provided [RCV000864995] Chr9:77252311 [GRCh38]
Chr9:79867227 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) single nucleotide variant Chorea-acanthocytosis [RCV001169678]|VPS13A-related disorder [RCV003928395]|not provided [RCV000867464] Chr9:77321510 [GRCh38]
Chr9:79936426 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_033305.3(VPS13A):c.399G>A (p.Pro133=) single nucleotide variant not provided [RCV000868753] Chr9:77209436 [GRCh38]
Chr9:79824352 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4383A>G (p.Lys1461=) single nucleotide variant not provided [RCV000944376] Chr9:77314635 [GRCh38]
Chr9:79929551 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7782T>C (p.Val2594=) single nucleotide variant not provided [RCV000926170] Chr9:77356843 [GRCh38]
Chr9:79971759 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1734T>C (p.Val578=) single nucleotide variant Chorea-acanthocytosis [RCV001825719]|not provided [RCV000864378] Chr9:77238140 [GRCh38]
Chr9:79853056 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) single nucleotide variant Chorea-acanthocytosis [RCV001165692]|not provided [RCV000871267] Chr9:77332057 [GRCh38]
Chr9:79946973 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser) single nucleotide variant Chorea-acanthocytosis [RCV001274088]|Inborn genetic diseases [RCV003169121]|not provided [RCV000865669] Chr9:77318505 [GRCh38]
Chr9:79933421 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.6489C>T (p.His2163=) single nucleotide variant Chorea-acanthocytosis [RCV001274100]|not provided [RCV000868044] Chr9:77339626 [GRCh38]
Chr9:79954542 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.8268A>G (p.Ser2756=) single nucleotide variant not provided [RCV000983574] Chr9:77365516 [GRCh38]
Chr9:79980432 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1974C>T (p.Val658=) single nucleotide variant not provided [RCV000922465] Chr9:77247332 [GRCh38]
Chr9:79862248 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5466A>G (p.Glu1822=) single nucleotide variant not provided [RCV000868949] Chr9:77321219 [GRCh38]
Chr9:79936135 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1453-5C>T single nucleotide variant not provided [RCV000928369] Chr9:77228117 [GRCh38]
Chr9:79843033 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8478A>G (p.Ala2826=) single nucleotide variant not provided [RCV000868126] Chr9:77368061 [GRCh38]
Chr9:79982977 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=) single nucleotide variant Chorea-acanthocytosis [RCV001271526]|not provided [RCV000863769] Chr9:77282234 [GRCh38]
Chr9:79897150 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.7420-4C>T single nucleotide variant Chorea-acanthocytosis [RCV001832195]|not provided [RCV000950953] Chr9:77353405 [GRCh38]
Chr9:79968321 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1596-4G>T single nucleotide variant not provided [RCV000950958] Chr9:77237998 [GRCh38]
Chr9:79852914 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4626A>G (p.Glu1542=) single nucleotide variant Chorea-acanthocytosis [RCV001274085]|not provided [RCV000865868] Chr9:77315466 [GRCh38]
Chr9:79930382 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7290-10A>G single nucleotide variant Chorea-acanthocytosis [RCV001274598]|VPS13A-related disorder [RCV003908253]|not provided [RCV000869070] Chr9:77351307 [GRCh38]
Chr9:79966223 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.9459C>T (p.Thr3153=) single nucleotide variant not provided [RCV000982337] Chr9:77407592 [GRCh38]
Chr9:80022508 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8016G>C (p.Lys2672Asn) single nucleotide variant VPS13A-related disorder [RCV003955641]|not provided [RCV000866300] Chr9:77358419 [GRCh38]
Chr9:79973335 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.3235+8A>G single nucleotide variant VPS13A-related disorder [RCV003930374]|not provided [RCV000868207] Chr9:77283479 [GRCh38]
Chr9:79898395 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter) single nucleotide variant Chorea-acanthocytosis [RCV001030432]|not provided [RCV002552041] Chr9:77317660 [GRCh38]
Chr9:79932576 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.3753C>G (p.Ser1251Arg) single nucleotide variant Inborn genetic diseases [RCV003164412]|not provided [RCV002280403] Chr9:77295787 [GRCh38]
Chr9:79910703 [GRCh37]
Chr9:9q21.2		 uncertain significance
NC_000009.12:g.77177276dup duplication not provided [RCV002280493] Chr9:77177270..77177271 [GRCh38]
Chr9:79792186..79792187 [GRCh37]
Chr9:9q21.2		 likely benign
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32		 pathogenic
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) deletion Chorea-acanthocytosis [RCV001827241]|not provided [RCV001040570] Chr9:77332076 [GRCh38]
Chr9:79946992 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter) single nucleotide variant Chorea-acanthocytosis [RCV003339452]|not provided [RCV001063011] Chr9:77281915 [GRCh38]
Chr9:79896831 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.952A>T (p.Lys318Ter) single nucleotide variant not provided [RCV001068476] Chr9:77220346 [GRCh38]
Chr9:79835262 [GRCh37]
Chr9:9q21.2		 pathogenic
NC_000009.12:g.(?_77280149)_(77295856_?)del deletion not provided [RCV001032426] Chr9:79895065..79910772 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.9068del (p.Gly3023fs) deletion not provided [RCV001062088] Chr9:77371138 [GRCh38]
Chr9:79986054 [GRCh37]
Chr9:9q21.2		 pathogenic
Single allele insertion not provided [RCV001089830] Chr9:9q21.2 pathogenic
NM_033305.3(VPS13A):c.2765dup (p.Tyr922Ter) duplication not provided [RCV001049478] Chr9:77276161..77276162 [GRCh38]
Chr9:79891077..79891078 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) duplication Chorea-acanthocytosis [RCV001276369]|not provided [RCV000809886] Chr9:77295589..77295590 [GRCh38]
Chr9:79910505..79910506 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter) single nucleotide variant Chorea-acanthocytosis [RCV000778890] Chr9:77405914 [GRCh38]
Chr9:80020830 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3961-7_3961-6insC insertion not provided [RCV000944349] Chr9:77307938..77307939 [GRCh38]
Chr9:79922854..79922855 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6915T>C (p.Ile2305=) single nucleotide variant not provided [RCV000978024] Chr9:77340439 [GRCh38]
Chr9:79955355 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.126A>G (p.Gln42=) single nucleotide variant Chorea-acanthocytosis [RCV001825729]|not provided [RCV000865943] Chr9:77199970 [GRCh38]
Chr9:79814886 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2037+8C>G single nucleotide variant not provided [RCV000930625] Chr9:77247403 [GRCh38]
Chr9:79862319 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1704A>T (p.Thr568=) single nucleotide variant not provided [RCV000979072] Chr9:77238110 [GRCh38]
Chr9:79853026 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.971A>G (p.His324Arg) single nucleotide variant Chorea-acanthocytosis [RCV001165492]|Inborn genetic diseases [RCV002536239]|not provided [RCV000862847] Chr9:77220365 [GRCh38]
Chr9:79835281 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=) single nucleotide variant Chorea-acanthocytosis [RCV001276362]|VPS13A-related disorder [RCV003908220]|not provided [RCV000866147] Chr9:77226510 [GRCh38]
Chr9:79841426 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.519G>A (p.Leu173=) single nucleotide variant not provided [RCV000872294] Chr9:77210639 [GRCh38]
Chr9:79825555 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5364C>G (p.Pro1788=) single nucleotide variant not provided [RCV000978808] Chr9:77319622 [GRCh38]
Chr9:79934538 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2676C>T (p.Ile892=) single nucleotide variant VPS13A-related disorder [RCV003908223]|not provided [RCV000866318] Chr9:77276073 [GRCh38]
Chr9:79890989 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8211+5G>A single nucleotide variant Chorea-acanthocytosis [RCV001277457]|VPS13A-related disorder [RCV003908251]|not provided [RCV000869065] Chr9:77360646 [GRCh38]
Chr9:79975562 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1596-8T>A single nucleotide variant not provided [RCV000872324] Chr9:77237994 [GRCh38]
Chr9:79852910 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8907+10T>G single nucleotide variant Chorea-acanthocytosis [RCV001274603]|not provided [RCV000861567] Chr9:77370588 [GRCh38]
Chr9:79985504 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=) single nucleotide variant Chorea-acanthocytosis [RCV001167673]|not provided [RCV000979393] Chr9:77247287 [GRCh38]
Chr9:79862203 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.5281C>T (p.Leu1761=) single nucleotide variant Chorea-acanthocytosis [RCV001271417]|not provided [RCV000862920] Chr9:77318559 [GRCh38]
Chr9:79933475 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2139T>G (p.Leu713=) single nucleotide variant not provided [RCV000982249] Chr9:77250198 [GRCh38]
Chr9:79865114 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.990-10T>C single nucleotide variant not provided [RCV000983600] Chr9:77221175 [GRCh38]
Chr9:79836091 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=) single nucleotide variant Chorea-acanthocytosis [RCV001278781]|not provided [RCV000868662] Chr9:77366757 [GRCh38]
Chr9:79981673 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) single nucleotide variant Chorea-acanthocytosis [RCV001167159]|not provided [RCV000861665] Chr9:77281884 [GRCh38]
Chr9:79896800 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.8953+8T>C single nucleotide variant not provided [RCV000982011] Chr9:77370943 [GRCh38]
Chr9:79985859 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) single nucleotide variant Chorea-acanthocytosis [RCV001830891]|Inborn genetic diseases [RCV002538966]|VPS13A-related disorder [RCV003908219]|not provided [RCV000866132]|not specified [RCV003396507] Chr9:77382017 [GRCh38]
Chr9:79996933 [GRCh37]
Chr9:9q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.101-7T>C single nucleotide variant Chorea-acanthocytosis [RCV001168739]|not provided [RCV000861939] Chr9:77199938 [GRCh38]
Chr9:79814854 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.1824A>G (p.Pro608=) single nucleotide variant Chorea-acanthocytosis [RCV001271519]|not provided [RCV000864514] Chr9:77238310 [GRCh38]
Chr9:79853226 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.7420-4C>A single nucleotide variant not provided [RCV000917303] Chr9:77353405 [GRCh38]
Chr9:79968321 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys) single nucleotide variant Chorea-acanthocytosis [RCV001274607]|Inborn genetic diseases [RCV002538906]|not provided [RCV000861959] Chr9:77403320 [GRCh38]
Chr9:80018236 [GRCh37]
Chr9:9q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033305.3(VPS13A):c.9501A>G (p.Ala3167=) single nucleotide variant not provided [RCV000982805] Chr9:77415982 [GRCh38]
Chr9:80030898 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1830G>A (p.Glu610=) single nucleotide variant not provided [RCV000925532] Chr9:77238316 [GRCh38]
Chr9:79853232 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4590T>G (p.Ala1530=) single nucleotide variant Chorea-acanthocytosis [RCV001825714]|not provided [RCV000862046] Chr9:77315430 [GRCh38]
Chr9:79930346 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1224+7C>T single nucleotide variant not provided [RCV000941812] Chr9:77225995 [GRCh38]
Chr9:79840911 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9077+8C>T single nucleotide variant Chorea-acanthocytosis [RCV001825744]|not provided [RCV000869262] Chr9:77371157 [GRCh38]
Chr9:79986073 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8151T>C (p.Leu2717=) single nucleotide variant not provided [RCV000942781] Chr9:77360581 [GRCh38]
Chr9:79975497 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8953+7A>G single nucleotide variant Chorea-acanthocytosis [RCV001274604]|not provided [RCV000862201] Chr9:77370942 [GRCh38]
Chr9:79985858 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6558T>C (p.Val2186=) single nucleotide variant Chorea-acanthocytosis [RCV001825734]|not provided [RCV000867977] Chr9:77339695 [GRCh38]
Chr9:79954611 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5598A>G (p.Gly1866=) single nucleotide variant not provided [RCV000979799] Chr9:77321514 [GRCh38]
Chr9:79936430 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3118+9T>C single nucleotide variant not provided [RCV000865558] Chr9:77282283 [GRCh38]
Chr9:79897199 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) single nucleotide variant Chorea-acanthocytosis [RCV001167222]|not provided [RCV000868288] Chr9:77315442 [GRCh38]
Chr9:79930358 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_033305.3(VPS13A):c.3753C>T (p.Ser1251=) single nucleotide variant not provided [RCV000943120] Chr9:77295787 [GRCh38]
Chr9:79910703 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3961-9T>C single nucleotide variant not provided [RCV000870928] Chr9:77307936 [GRCh38]
Chr9:79922852 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.945G>A (p.Arg315=) single nucleotide variant not provided [RCV000978718] Chr9:77220339 [GRCh38]
Chr9:79835255 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3508-8T>C single nucleotide variant Chorea-acanthocytosis [RCV001276368]|not provided [RCV000863503] Chr9:77295534 [GRCh38]
Chr9:79910450 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.228T>C (p.Thr76=) single nucleotide variant Chorea-acanthocytosis [RCV001169512]|not provided [RCV000861168] Chr9:77205353 [GRCh38]
Chr9:79820269 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9077+8C>G single nucleotide variant Chorea-acanthocytosis [RCV001169813]|not provided [RCV000862739] Chr9:77371157 [GRCh38]
Chr9:79986073 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3600C>T (p.Leu1200=) single nucleotide variant not provided [RCV000866486] Chr9:77295634 [GRCh38]
Chr9:79910550 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.900G>A (p.Glu300=) single nucleotide variant Chorea-acanthocytosis [RCV001271516]|not provided [RCV000866565] Chr9:77220294 [GRCh38]
Chr9:79835210 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2601A>G (p.Arg867=) single nucleotide variant Chorea-acanthocytosis [RCV001830892]|not provided [RCV000866618] Chr9:77275586 [GRCh38]
Chr9:79890502 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.723T>C (p.Asn241=) single nucleotide variant Chorea-acanthocytosis [RCV001276361]|not provided [RCV000868049] Chr9:77214355 [GRCh38]
Chr9:79829271 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5831-8T>C single nucleotide variant Chorea-acanthocytosis [RCV001165689]|not provided [RCV000861238] Chr9:77323059 [GRCh38]
Chr9:79937975 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_033305.3(VPS13A):c.5439C>T (p.Ala1813=) single nucleotide variant Chorea-acanthocytosis [RCV001271418]|not provided [RCV000862525] Chr9:77321192 [GRCh38]
Chr9:79936108 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.6379-8T>A single nucleotide variant not provided [RCV000863629] Chr9:77339508 [GRCh38]
Chr9:79954424 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1197T>C (p.Thr399=) single nucleotide variant Chorea-acanthocytosis [RCV001271518]|not provided [RCV000868355] Chr9:77225961 [GRCh38]
Chr9:79840877 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.7986C>G (p.Pro2662=) single nucleotide variant not provided [RCV000981440] Chr9:77358389 [GRCh38]
Chr9:79973305 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8553+9A>G single nucleotide variant not provided [RCV000870420] Chr9:77368145 [GRCh38]
Chr9:79983061 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1596-6A>T single nucleotide variant not provided [RCV000893707] Chr9:77237996 [GRCh38]
Chr9:79852912 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7278A>G (p.Gln2426=) single nucleotide variant Chorea-acanthocytosis [RCV001274597]|not provided [RCV000915174] Chr9:77345131 [GRCh38]
Chr9:79960047 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys) single nucleotide variant Chorea-acanthocytosis [RCV001827141]|not provided [RCV000993547] Chr9:77213023 [GRCh38]
Chr9:79827939 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6094C>T (p.Arg2032Ter) single nucleotide variant VPS13A-related disorder [RCV003392604]|not provided [RCV000800102] Chr9:77332112 [GRCh38]
Chr9:79947028 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.6042A>G (p.Leu2014=) single nucleotide variant not provided [RCV000869720] Chr9:77332060 [GRCh38]
Chr9:79946976 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2242T>C (p.Leu748=) single nucleotide variant not provided [RCV000869881] Chr9:77252306 [GRCh38]
Chr9:79867222 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8588T>C (p.Leu2863Pro) single nucleotide variant not provided [RCV000999172] Chr9:77369333 [GRCh38]
Chr9:79984249 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs) deletion Chorea-acanthocytosis [RCV000826154]|not provided [RCV002538244] Chr9:77337441 [GRCh38]
Chr9:79952357 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.3600C>G (p.Leu1200=) single nucleotide variant not provided [RCV000976457] Chr9:77295634 [GRCh38]
Chr9:79910550 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4498dup (p.Ala1500fs) duplication not provided [RCV000802250] Chr9:77315337..77315338 [GRCh38]
Chr9:79930253..79930254 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.7953+1G>A single nucleotide variant Chorea-acanthocytosis [RCV001830771]|not provided [RCV000811112] Chr9:77357839 [GRCh38]
Chr9:79972755 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.7156-2A>T single nucleotide variant Chorea-acanthocytosis [RCV004800596]|not provided [RCV000805086] Chr9:77345007 [GRCh38]
Chr9:79959923 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.1108A>T (p.Lys370Ter) single nucleotide variant not provided [RCV000802707] Chr9:77221303 [GRCh38]
Chr9:79836219 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu) single nucleotide variant Chorea-acanthocytosis [RCV001165632]|not provided [RCV002557419] Chr9:77307945 [GRCh38]
Chr9:79922861 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4325A>G (p.Tyr1442Cys) single nucleotide variant Chorea-acanthocytosis [RCV001165636] Chr9:77314577 [GRCh38]
Chr9:79929493 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.1785+7A>G single nucleotide variant Chorea-acanthocytosis [RCV001167672]|VPS13A-related disorder [RCV003908419]|not provided [RCV001396112] Chr9:77238198 [GRCh38]
Chr9:79853114 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg) single nucleotide variant Chorea-acanthocytosis [RCV001165766]|Inborn genetic diseases [RCV002558614] Chr9:77357738 [GRCh38]
Chr9:79972654 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.*665C>G single nucleotide variant Chorea-acanthocytosis [RCV001167419] Chr9:77416671 [GRCh38]
Chr9:80031587 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala) single nucleotide variant Chorea-acanthocytosis [RCV001165559]|VPS13A-related disorder [RCV003973120]|not provided [RCV001514979] Chr9:77276090 [GRCh38]
Chr9:79891006 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.4190G>A (p.Ser1397Asn) single nucleotide variant Chorea-acanthocytosis [RCV001165634] Chr9:77314067 [GRCh38]
Chr9:79928983 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*1078T>G single nucleotide variant Chorea-acanthocytosis [RCV001168029] Chr9:77417084 [GRCh38]
Chr9:80032000 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3157C>T (p.Gln1053Ter) single nucleotide variant not provided [RCV001053384] Chr9:77283393 [GRCh38]
Chr9:79898309 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=) single nucleotide variant Chorea-acanthocytosis [RCV001167156]|not provided [RCV001489509] Chr9:77280175 [GRCh38]
Chr9:79895091 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3184C>T (p.Gln1062Ter) single nucleotide variant not provided [RCV001054548] Chr9:77283420 [GRCh38]
Chr9:79898336 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.2496A>T (p.Pro832=) single nucleotide variant Chorea-acanthocytosis [RCV001825809]|not provided [RCV000898581] Chr9:77273348 [GRCh38]
Chr9:79888264 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.768A>T (p.Ile256=) single nucleotide variant not provided [RCV000978327] Chr9:77219967 [GRCh38]
Chr9:79834883 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2296A>G (p.Ile766Val) single nucleotide variant Chorea-acanthocytosis [RCV001827074]|not provided [RCV000976491] Chr9:77260093 [GRCh38]
Chr9:79875009 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=) single nucleotide variant Chorea-acanthocytosis [RCV001167158]|not provided [RCV000861169] Chr9:77281872 [GRCh38]
Chr9:79896788 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2295G>A (p.Lys765=) single nucleotide variant not provided [RCV000979313] Chr9:77260092 [GRCh38]
Chr9:79875008 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6252A>G (p.Glu2084=) single nucleotide variant VPS13A-related disorder [RCV003965658]|not provided [RCV000862790] Chr9:77337411 [GRCh38]
Chr9:79952327 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) single nucleotide variant Chorea-acanthocytosis [RCV001165767]|VPS13A-related disorder [RCV003955579]|not provided [RCV000861958] Chr9:77357805 [GRCh38]
Chr9:79972721 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.261_264del (p.Leu88_Leu89insTer) microsatellite not provided [RCV000823075] Chr9:77205381..77205384 [GRCh38]
Chr9:79820297..79820300 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) single nucleotide variant Chorea-acanthocytosis [RCV001167092]|not provided [RCV000862130] Chr9:77228197 [GRCh38]
Chr9:79843113 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3036T>C (p.Asn1012=) single nucleotide variant not provided [RCV000981530] Chr9:77282192 [GRCh38]
Chr9:79897108 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.615+8_615+11del microsatellite not provided [RCV000977065] Chr9:77213030..77213033 [GRCh38]
Chr9:79827946..79827949 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6234C>T (p.Leu2078=) single nucleotide variant Chorea-acanthocytosis [RCV001274098]|not provided [RCV000871772] Chr9:77337393 [GRCh38]
Chr9:79952309 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=) single nucleotide variant Chorea-acanthocytosis [RCV001167808]|not provided [RCV002067823] Chr9:77321234 [GRCh38]
Chr9:79936150 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.6573G>T (p.Lys2191Asn) single nucleotide variant Chorea-acanthocytosis [RCV001167872] Chr9:77339710 [GRCh38]
Chr9:79954626 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys) single nucleotide variant Chorea-acanthocytosis [RCV001167873]|not provided [RCV003117796] Chr9:77339750 [GRCh38]
Chr9:79954666 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6680A>G (p.Tyr2227Cys) single nucleotide variant Chorea-acanthocytosis [RCV001167875] Chr9:77339817 [GRCh38]
Chr9:79954733 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.515C>T (p.Pro172Leu) single nucleotide variant Chorea-acanthocytosis [RCV001169514] Chr9:77210635 [GRCh38]
Chr9:79825551 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln) single nucleotide variant Chorea-acanthocytosis [RCV001169516]|not provided [RCV002558686] Chr9:77213241 [GRCh38]
Chr9:79828157 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3813-15T>C single nucleotide variant Chorea-acanthocytosis [RCV001169609]|not provided [RCV001586017] Chr9:77302900 [GRCh38]
Chr9:79917816 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.*933A>G single nucleotide variant Chorea-acanthocytosis [RCV001168027] Chr9:77416939 [GRCh38]
Chr9:80031855 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7127A>G (p.Asn2376Ser) single nucleotide variant Chorea-acanthocytosis [RCV001169749] Chr9:77344253 [GRCh38]
Chr9:79959169 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3971_3974del (p.Ser1324fs) deletion not provided [RCV001092271] Chr9:77307954..77307957 [GRCh38]
Chr9:79922870..79922873 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys) single nucleotide variant Chorea-acanthocytosis [RCV001274599]|not provided [RCV000993548] Chr9:77351367 [GRCh38]
Chr9:79966283 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu) single nucleotide variant Chorea-acanthocytosis [RCV001167093] Chr9:77238020 [GRCh38]
Chr9:79852936 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.1621C>T (p.His541Tyr) single nucleotide variant Chorea-acanthocytosis [RCV001167094] Chr9:77238027 [GRCh38]
Chr9:79852943 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8095T>C (p.Ser2699Pro) single nucleotide variant Chorea-acanthocytosis [RCV001167352] Chr9:77359392 [GRCh38]
Chr9:79974308 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6581T>G (p.Leu2194Ter) single nucleotide variant not provided [RCV001055791] Chr9:77339718 [GRCh38]
Chr9:79954634 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu) single nucleotide variant Chorea-acanthocytosis [RCV001165765]|not provided [RCV002558613] Chr9:77357735 [GRCh38]
Chr9:79972651 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_033305.3(VPS13A):c.6102C>T (p.Phe2034=) single nucleotide variant Chorea-acanthocytosis [RCV001271424]|not provided [RCV000870719] Chr9:77337261 [GRCh38]
Chr9:79952177 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=) single nucleotide variant Chorea-acanthocytosis [RCV001825746]|not provided [RCV000869537] Chr9:77227413 [GRCh38]
Chr9:79842329 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3072G>C (p.Val1024=) single nucleotide variant not provided [RCV000975587] Chr9:77282228 [GRCh38]
Chr9:79897144 [GRCh37]
Chr9:9q21.2		 likely benign
GRCh37/hg19 9q21.13-21.31(chr9:78672613-83349616)x1 copy number loss not provided [RCV000848555] Chr9:78672613..83349616 [GRCh37]
Chr9:9q21.13-21.31		 uncertain significance
NM_033305.3(VPS13A):c.1400_1401del (p.Leu466_Tyr467insTer) deletion not provided [RCV001055659] Chr9:77227432..77227433 [GRCh38]
Chr9:79842348..79842349 [GRCh37]
Chr9:9q21.2		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
NM_033305.3(VPS13A):c.3227del (p.Lys1076fs) deletion not provided [RCV001213735] Chr9:77283462 [GRCh38]
Chr9:79898378 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.6096-256G>T single nucleotide variant not provided [RCV001544682] Chr9:77336999 [GRCh38]
Chr9:79951915 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2484_2485del (p.Leu829fs) microsatellite not provided [RCV001226860] Chr9:77273332..77273333 [GRCh38]
Chr9:79888248..79888249 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.551_554del (p.Met184fs) deletion not provided [RCV001208807] Chr9:77210668..77210671 [GRCh38]
Chr9:79825584..79825587 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.3817C>T (p.Arg1273Ter) single nucleotide variant not provided [RCV001242927] Chr9:77302919 [GRCh38]
Chr9:79917835 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) microsatellite Chorea-acanthocytosis [RCV001828759]|VPS13A-related disorder [RCV003405407]|not provided [RCV001220781] Chr9:77356792..77356795 [GRCh38]
Chr9:79971708..79971711 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_033305.3(VPS13A):c.5696_5700del (p.Leu1899fs) deletion not provided [RCV001223314] Chr9:77321610..77321614 [GRCh38]
Chr9:79936526..79936530 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.4446dup (p.Asp1483fs) duplication Chorea-acanthocytosis [RCV004771496]|not provided [RCV001222045] Chr9:77315280..77315281 [GRCh38]
Chr9:79930196..79930197 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_033305.3(VPS13A):c.3961-2A>C single nucleotide variant Chorea-acanthocytosis [RCV001828638]|not provided [RCV001204165] Chr9:77307943 [GRCh38]
Chr9:79922859 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.8563dup (p.Gln2855fs) duplication not provided [RCV001226063] Chr9:77369307..77369308 [GRCh38]
Chr9:79984223..79984224 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.6485A>T (p.Asn2162Ile) single nucleotide variant Chorea-acanthocytosis [RCV001198657] Chr9:77339622 [GRCh38]
Chr9:79954538 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.2(chr9:79913779-79961377)x3 copy number gain not provided [RCV000847507] Chr9:79913779..79961377 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_033305.3(VPS13A):c.7153G>A (p.Glu2385Lys) single nucleotide variant Inborn genetic diseases [RCV003239767] Chr9:77344279 [GRCh38]
Chr9:79959195 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4915C>G (p.Pro1639Ala) single nucleotide variant Chorea-acanthocytosis [RCV001167223] Chr9:77317657 [GRCh38]
Chr9:79932573 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8554-1G>C single nucleotide variant not provided [RCV001210975] Chr9:77369298 [GRCh38]
Chr9:79984214 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro) single nucleotide variant Chorea-acanthocytosis [RCV001167674]|Inborn genetic diseases [RCV002559603]|not provided [RCV002557442] Chr9:77247357 [GRCh38]
Chr9:79862273 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3211A>G (p.Asn1071Asp) single nucleotide variant Chorea-acanthocytosis [RCV001167734] Chr9:77283447 [GRCh38]
Chr9:79898363 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.755-7T>C single nucleotide variant Chorea-acanthocytosis [RCV001165489]|not provided [RCV001410067] Chr9:77219947 [GRCh38]
Chr9:79834863 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.6739T>A (p.Ser2247Thr) single nucleotide variant Chorea-acanthocytosis [RCV001167876] Chr9:77339876 [GRCh38]
Chr9:79954792 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=) single nucleotide variant Chorea-acanthocytosis [RCV001167878]|not provided [RCV001410163] Chr9:77340502 [GRCh38]
Chr9:79955418 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.4223A>G (p.Tyr1408Cys) single nucleotide variant Chorea-acanthocytosis [RCV001165635] Chr9:77314100 [GRCh38]
Chr9:79929016 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*106T>G single nucleotide variant Chorea-acanthocytosis [RCV001165843] Chr9:77416112 [GRCh38]
Chr9:80031028 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*1140A>T single nucleotide variant Chorea-acanthocytosis [RCV001168800] Chr9:77417146 [GRCh38]
Chr9:80032062 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7155+1del deletion not provided [RCV001247708] Chr9:77344281 [GRCh38]
Chr9:79959197 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp) single nucleotide variant Chorea-acanthocytosis [RCV001169517]|not provided [RCV002558687] Chr9:77213267 [GRCh38]
Chr9:79828183 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.87G>A (p.Leu29=) single nucleotide variant not provided [RCV003105173] Chr9:77177791 [GRCh38]
Chr9:79792707 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6501T>C (p.Ser2167=) single nucleotide variant not provided [RCV003105138] Chr9:77339638 [GRCh38]
Chr9:79954554 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6379-22_6379-19del deletion not provided [RCV001581057] Chr9:77339491..77339494 [GRCh38]
Chr9:79954407..79954410 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1161+77T>G single nucleotide variant not provided [RCV001581203] Chr9:77221433 [GRCh38]
Chr9:79836349 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3339+235G>T single nucleotide variant not provided [RCV001568575] Chr9:77283885 [GRCh38]
Chr9:79898801 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3119-5del deletion not provided [RCV001576424] Chr9:77283342 [GRCh38]
Chr9:79898258 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2428-52G>A single nucleotide variant not provided [RCV001545199] Chr9:77273228 [GRCh38]
Chr9:79888144 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9176A>G (p.Asn3059Ser) single nucleotide variant not provided [RCV001579717] Chr9:77382074 [GRCh38]
Chr9:79996990 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.9078-227A>C single nucleotide variant not provided [RCV001545849] Chr9:77381749 [GRCh38]
Chr9:79996665 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2904+247dup duplication not provided [RCV001550746] Chr9:77280475..77280476 [GRCh38]
Chr9:79895391..79895392 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8667+106A>G single nucleotide variant Chorea-acanthocytosis [RCV001543763]|not provided [RCV001673166] Chr9:77369518 [GRCh38]
Chr9:79984434 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9078-133A>G single nucleotide variant Chorea-acanthocytosis [RCV001543764]|not provided [RCV001647390] Chr9:77381843 [GRCh38]
Chr9:79996759 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3118+66A>C single nucleotide variant Chorea-acanthocytosis [RCV001544011] Chr9:77282340 [GRCh38]
Chr9:79897256 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7026+62A>G single nucleotide variant Chorea-acanthocytosis [RCV001544017]|not provided [RCV001615273] Chr9:77340612 [GRCh38]
Chr9:79955528 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.385+221TTA[4] microsatellite not provided [RCV001565840] Chr9:77206300..77206302 [GRCh38]
Chr9:79821216..79821218 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9189+2216C>G single nucleotide variant not provided [RCV001551093] Chr9:77384303 [GRCh38]
Chr9:79999219 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8554-259A>G single nucleotide variant not provided [RCV001547237] Chr9:77369040 [GRCh38]
Chr9:79983956 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1901-156T>C single nucleotide variant not provided [RCV001552154] Chr9:77247103 [GRCh38]
Chr9:79862019 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8325+106A>G single nucleotide variant not provided [RCV001575469] Chr9:77365679 [GRCh38]
Chr9:79980595 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.187+166T>C single nucleotide variant not provided [RCV001568146] Chr9:77201573 [GRCh38]
Chr9:79816489 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8553+20A>T single nucleotide variant not provided [RCV003106827] Chr9:77368156 [GRCh38]
Chr9:79983072 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6461A>G (p.His2154Arg) single nucleotide variant not provided [RCV004812798] Chr9:77339598 [GRCh38]
Chr9:79954514 [GRCh37]		 uncertain significance
NM_033305.3(VPS13A):c.9386G>A (p.Arg3129His) single nucleotide variant Inborn genetic diseases [RCV003292363] Chr9:77405974 [GRCh38]
Chr9:80020890 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.696+200del deletion not provided [RCV001611944] Chr9:77213498 [GRCh38]
Chr9:79828414 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.697-208C>T single nucleotide variant not provided [RCV001575884] Chr9:77214121 [GRCh38]
Chr9:79829037 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8035+254A>G single nucleotide variant not provided [RCV001549709] Chr9:77358692 [GRCh38]
Chr9:79973608 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9189+2408T>G single nucleotide variant not provided [RCV001560250] Chr9:77384495 [GRCh38]
Chr9:79999411 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.990-203A>G single nucleotide variant not provided [RCV001720871] Chr9:77220982 [GRCh38]
Chr9:79835898 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9189+2618del deletion not provided [RCV001549835] Chr9:77384705 [GRCh38]
Chr9:79999621 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8211+104A>G single nucleotide variant not provided [RCV001555041] Chr9:77360745 [GRCh38]
Chr9:79975661 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8472-152T>C single nucleotide variant not provided [RCV001555074] Chr9:77367903 [GRCh38]
Chr9:79982819 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3961-207A>G single nucleotide variant not provided [RCV001560725] Chr9:77307738 [GRCh38]
Chr9:79922654 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5416-132A>G single nucleotide variant not provided [RCV001598374] Chr9:77321037 [GRCh38]
Chr9:79935953 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.188-88_188-87insT insertion not provided [RCV001684700] Chr9:77205225..77205226 [GRCh38]
Chr9:79820141..79820142 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.283+269T>C single nucleotide variant not provided [RCV001645277] Chr9:77205677 [GRCh38]
Chr9:79820593 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.385+249_385+250insA insertion not provided [RCV001598399] Chr9:77206328..77206329 [GRCh38]
Chr9:79821244..79821245 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.6096-212C>T single nucleotide variant not provided [RCV001596497] Chr9:77337043 [GRCh38]
Chr9:79951959 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1595+292del deletion not provided [RCV001561314] Chr9:77228556 [GRCh38]
Chr9:79843472 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.989+304T>C single nucleotide variant not provided [RCV001534953] Chr9:77220687 [GRCh38]
Chr9:79835603 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.144+236T>C single nucleotide variant not provided [RCV001636352] Chr9:77200224 [GRCh38]
Chr9:79815140 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1901-295G>A single nucleotide variant not provided [RCV001556172] Chr9:77246964 [GRCh38]
Chr9:79861880 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.696+176C>T single nucleotide variant not provided [RCV001674173] Chr9:77213490 [GRCh38]
Chr9:79828406 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7807-241A>G single nucleotide variant not provided [RCV001591988] Chr9:77357451 [GRCh38]
Chr9:79972367 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6096-256G>A single nucleotide variant not provided [RCV001651646] Chr9:77336999 [GRCh38]
Chr9:79951915 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9475-210A>G single nucleotide variant not provided [RCV001545321] Chr9:77415746 [GRCh38]
Chr9:80030662 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4412+174T>G single nucleotide variant not provided [RCV001610905] Chr9:77314838 [GRCh38]
Chr9:79929754 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1452+221_1452+222insG insertion not provided [RCV001681499] Chr9:77227706..77227707 [GRCh38]
Chr9:79842622..79842623 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8106-241A>G single nucleotide variant not provided [RCV001550816] Chr9:77360295 [GRCh38]
Chr9:79975211 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9078-259C>T single nucleotide variant not provided [RCV001561864] Chr9:77381717 [GRCh38]
Chr9:79996633 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9077+55G>C single nucleotide variant not provided [RCV001676300] Chr9:77371204 [GRCh38]
Chr9:79986120 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.697-87C>T single nucleotide variant not provided [RCV001569784] Chr9:77214242 [GRCh38]
Chr9:79829158 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1452+229dup duplication not provided [RCV001669939] Chr9:77227702..77227703 [GRCh38]
Chr9:79842618..79842619 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2512+214A>C single nucleotide variant not provided [RCV001682612] Chr9:77273578 [GRCh38]
Chr9:79888494 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.883-91T>A single nucleotide variant not provided [RCV001717975] Chr9:77220186 [GRCh38]
Chr9:79835102 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8667+27C>T single nucleotide variant not provided [RCV001557334] Chr9:77369439 [GRCh38]
Chr9:79984355 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7652+90C>G single nucleotide variant not provided [RCV001592257] Chr9:77353731 [GRCh38]
Chr9:79968647 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.101-296C>T single nucleotide variant not provided [RCV001639803] Chr9:77199649 [GRCh38]
Chr9:79814565 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2905-190C>A single nucleotide variant not provided [RCV001682360] Chr9:77281677 [GRCh38]
Chr9:79896593 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1195_1198del (p.Ile398_Thr399insTer) deletion Chorea-acanthocytosis [RCV004783350] Chr9:77225957..77225960 [GRCh38]
Chr9:79840873..79840876 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.4863+255G>A single nucleotide variant not provided [RCV001669199] Chr9:77316661 [GRCh38]
Chr9:79931577 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.385+250T>A single nucleotide variant not provided [RCV001640002] Chr9:77206329 [GRCh38]
Chr9:79821245 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3118+66A>G single nucleotide variant not provided [RCV001616060] Chr9:77282340 [GRCh38]
Chr9:79897256 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3339+331del deletion not provided [RCV001674674] Chr9:77283965 [GRCh38]
Chr9:79898881 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2170+42G>A single nucleotide variant Chorea-acanthocytosis [RCV001543939]|not provided [RCV001655850] Chr9:77250271 [GRCh38]
Chr9:79865187 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2428-50G>A single nucleotide variant Chorea-acanthocytosis [RCV001544008]|not provided [RCV001676044] Chr9:77273230 [GRCh38]
Chr9:79888146 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2825-63T>G single nucleotide variant Chorea-acanthocytosis [RCV001544010]|not provided [RCV001673171] Chr9:77280096 [GRCh38]
Chr9:79895012 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3961-22A>G single nucleotide variant Chorea-acanthocytosis [RCV001544015]|not provided [RCV001707904] Chr9:77307923 [GRCh38]
Chr9:79922839 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7954-43A>G single nucleotide variant not provided [RCV001558363] Chr9:77358314 [GRCh38]
Chr9:79973230 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5992-308A>G single nucleotide variant not provided [RCV001620758] Chr9:77331702 [GRCh38]
Chr9:79946618 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2905-217G>A single nucleotide variant not provided [RCV001710556] Chr9:77281650 [GRCh38]
Chr9:79896566 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2667+158_2667+159insT insertion not provided [RCV001724552] Chr9:77275810..77275811 [GRCh38]
Chr9:79890726..79890727 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1595+143dup duplication not provided [RCV001570711] Chr9:77228397..77228398 [GRCh38]
Chr9:79843313..79843314 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3813-268T>C single nucleotide variant not provided [RCV001558985] Chr9:77302647 [GRCh38]
Chr9:79917563 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.496-264C>A single nucleotide variant not provided [RCV001665444] Chr9:77210352 [GRCh38]
Chr9:79825268 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9399+197T>C single nucleotide variant not provided [RCV001674831] Chr9:77406184 [GRCh38]
Chr9:80021100 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9474+259_9474+262del microsatellite not provided [RCV001589942] Chr9:77407861..77407864 [GRCh38]
Chr9:80022777..80022780 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5313+298T>C single nucleotide variant not provided [RCV001656774] Chr9:77318889 [GRCh38]
Chr9:79933805 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.755-314C>T single nucleotide variant not provided [RCV001694895] Chr9:77219640 [GRCh38]
Chr9:79834556 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.4412+142C>T single nucleotide variant not provided [RCV001588309] Chr9:77314806 [GRCh38]
Chr9:79929722 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8553+154A>G single nucleotide variant not provided [RCV001677323] Chr9:77368290 [GRCh38]
Chr9:79983206 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7290-223T>C single nucleotide variant not provided [RCV001715447] Chr9:77351094 [GRCh38]
Chr9:79966010 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1452+207T>G single nucleotide variant not provided [RCV001670755] Chr9:77227692 [GRCh38]
Chr9:79842608 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7807-327_7807-318dup duplication not provided [RCV001583308] Chr9:77357363..77357364 [GRCh38]
Chr9:79972279..79972280 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2427+277G>A single nucleotide variant not provided [RCV001567180] Chr9:77260501 [GRCh38]
Chr9:79875417 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5855A>G (p.Asp1952Gly) single nucleotide variant Chorea-acanthocytosis [RCV001578844] Chr9:77323091 [GRCh38]
Chr9:79938007 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6905G>A (p.Ser2302Asn) single nucleotide variant Chorea-acanthocytosis [RCV001271426]|not provided [RCV000866019] Chr9:77340429 [GRCh38]
Chr9:79955345 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2964+5G>A single nucleotide variant Chorea-acanthocytosis [RCV001167160]|not provided [RCV000868692] Chr9:77281931 [GRCh38]
Chr9:79896847 [GRCh37]
Chr9:9q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_033305.3(VPS13A):c.3975A>G (p.Gln1325=) single nucleotide variant not provided [RCV000979861] Chr9:77307959 [GRCh38]
Chr9:79922875 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1146T>A (p.Leu382=) single nucleotide variant Chorea-acanthocytosis [RCV001836025]|not provided [RCV000931625] Chr9:77221341 [GRCh38]
Chr9:79836257 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.496-9C>T single nucleotide variant Chorea-acanthocytosis [RCV001169513]|not provided [RCV000862443] Chr9:77210607 [GRCh38]
Chr9:79825523 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.7572T>C (p.Ile2524=) single nucleotide variant not provided [RCV000927703] Chr9:77353561 [GRCh38]
Chr9:79968477 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3231T>C (p.Ile1077=) single nucleotide variant not provided [RCV000929820] Chr9:77283467 [GRCh38]
Chr9:79898383 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.210A>G (p.Pro70=) single nucleotide variant not provided [RCV000918666] Chr9:77205335 [GRCh38]
Chr9:79820251 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2881C>T (p.Leu961=) single nucleotide variant not provided [RCV000927869] Chr9:77280215 [GRCh38]
Chr9:79895131 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.963G>A (p.Val321=) single nucleotide variant Chorea-acanthocytosis [RCV001165491]|not provided [RCV000862179] Chr9:77220357 [GRCh38]
Chr9:79835273 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_033305.3(VPS13A):c.9037A>G (p.Ile3013Val) single nucleotide variant Chorea-acanthocytosis [RCV001278782]|not provided [RCV000866606] Chr9:77371109 [GRCh38]
Chr9:79986025 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.4644A>G (p.Glu1548=) single nucleotide variant not provided [RCV000977500] Chr9:77316187 [GRCh38]
Chr9:79931103 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4722T>G (p.Ala1574=) single nucleotide variant not provided [RCV000978178] Chr9:77316265 [GRCh38]
Chr9:79931181 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7179G>A (p.Val2393=) single nucleotide variant Chorea-acanthocytosis [RCV001274595]|not provided [RCV000863711] Chr9:77345032 [GRCh38]
Chr9:79959948 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.699C>T (p.Asp233=) single nucleotide variant Chorea-acanthocytosis [RCV001271514]|not provided [RCV000870758] Chr9:77214331 [GRCh38]
Chr9:79829247 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.6096-7C>T single nucleotide variant Chorea-acanthocytosis [RCV001167283]|not provided [RCV000863060] Chr9:77337248 [GRCh38]
Chr9:79952164 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.6891T>A (p.Thr2297=) single nucleotide variant not provided [RCV000867816] Chr9:77340415 [GRCh38]
Chr9:79955331 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=) single nucleotide variant Chorea-acanthocytosis [RCV001271525]|not provided [RCV000873383] Chr9:77282231 [GRCh38]
Chr9:79897147 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3714A>C (p.Thr1238=) single nucleotide variant Chorea-acanthocytosis [RCV001277446]|not provided [RCV000930084] Chr9:77295748 [GRCh38]
Chr9:79910664 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=) single nucleotide variant Chorea-acanthocytosis [RCV001276366]|not provided [RCV000864772] Chr9:77276163 [GRCh38]
Chr9:79891079 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1260A>G (p.Gly420=) single nucleotide variant not provided [RCV000868309] Chr9:77226501 [GRCh38]
Chr9:79841417 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6393G>A (p.Ser2131=) single nucleotide variant not provided [RCV000977801] Chr9:77339530 [GRCh38]
Chr9:79954446 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6095+1G>A single nucleotide variant not provided [RCV001218339] Chr9:77332114 [GRCh38]
Chr9:79947030 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.3508-240T>C single nucleotide variant not provided [RCV001609112] Chr9:77295302 [GRCh38]
Chr9:79910218 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8848_8860del (p.Asn2950fs) deletion not provided [RCV001244657] Chr9:77370518..77370530 [GRCh38]
Chr9:79985434..79985446 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.6340C>T (p.Arg2114Ter) single nucleotide variant not provided [RCV001236203] Chr9:77337499 [GRCh38]
Chr9:79952415 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.7294C>G (p.Leu2432Val) single nucleotide variant Chorea-acanthocytosis [RCV001169750] Chr9:77351321 [GRCh38]
Chr9:79966237 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter) single nucleotide variant Chorea-acanthocytosis [RCV001828675]|not provided [RCV001208989] Chr9:77252255 [GRCh38]
Chr9:79867171 [GRCh37]
Chr9:9q21.2		 pathogenic
NC_000009.12:g.(?_77209413)_(77276231_?)del deletion not provided [RCV001031470] Chr9:79824329..79891147 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.2149C>T (p.Gln717Ter) single nucleotide variant not provided [RCV001057356] Chr9:77250208 [GRCh38]
Chr9:79865124 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.2(VPS13A):c.-183G>A single nucleotide variant Chorea-acanthocytosis [RCV001167029] Chr9:77177522 [GRCh38]
Chr9:79792438 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala) single nucleotide variant Chorea-acanthocytosis [RCV001167157] Chr9:77280203 [GRCh38]
Chr9:79895119 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser) single nucleotide variant Chorea-acanthocytosis [RCV001167221]|Inborn genetic diseases [RCV002557437]|not provided [RCV004695097] Chr9:77315426 [GRCh38]
Chr9:79930342 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7953G>C (p.Gln2651His) single nucleotide variant Chorea-acanthocytosis [RCV001167351] Chr9:77357838 [GRCh38]
Chr9:79972754 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8472-12C>T single nucleotide variant Chorea-acanthocytosis [RCV001167353]|not provided [RCV001550611] Chr9:77368043 [GRCh38]
Chr9:79982959 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.*663T>C single nucleotide variant Chorea-acanthocytosis [RCV001167418] Chr9:77416669 [GRCh38]
Chr9:80031585 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter) single nucleotide variant Chorea-acanthocytosis [RCV001827425]|not provided [RCV001066244] Chr9:77407536 [GRCh38]
Chr9:80022452 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.2513-63A>G single nucleotide variant not provided [RCV001561759] Chr9:77275435 [GRCh38]
Chr9:79890351 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1357+277G>A single nucleotide variant not provided [RCV001676776] Chr9:77226875 [GRCh38]
Chr9:79841791 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1817G>A (p.Arg606Lys) single nucleotide variant not provided [RCV001579500] Chr9:77238303 [GRCh38]
Chr9:79853219 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2824+223A>G single nucleotide variant not provided [RCV001574584] Chr9:77276444 [GRCh38]
Chr9:79891360 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1224+184A>G single nucleotide variant not provided [RCV001557189] Chr9:77226172 [GRCh38]
Chr9:79841088 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9474+78A>G single nucleotide variant not provided [RCV001562749] Chr9:77407685 [GRCh38]
Chr9:80022601 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.385+250_385+251insATATATA insertion not provided [RCV001577861] Chr9:77206329..77206330 [GRCh38]
Chr9:79821245..79821246 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7420-18_7420-17dup duplication not provided [RCV001557603] Chr9:77353377..77353378 [GRCh38]
Chr9:79968293..79968294 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7290-237G>A single nucleotide variant not provided [RCV001575252] Chr9:77351080 [GRCh38]
Chr9:79965996 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9189+2818G>T single nucleotide variant not provided [RCV001578208] Chr9:77384905 [GRCh38]
Chr9:79999821 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7954-200T>A single nucleotide variant not provided [RCV001558223] Chr9:77358157 [GRCh38]
Chr9:79973073 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.989+21T>C single nucleotide variant not provided [RCV001558642] Chr9:77220404 [GRCh38]
Chr9:79835320 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9077+233C>T single nucleotide variant not provided [RCV001595592] Chr9:77371382 [GRCh38]
Chr9:79986298 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.696+153A>G single nucleotide variant not provided [RCV001559435] Chr9:77213467 [GRCh38]
Chr9:79828383 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5415+118C>T single nucleotide variant not provided [RCV001586726] Chr9:77319791 [GRCh38]
Chr9:79934707 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8106-344G>A single nucleotide variant not provided [RCV001596124] Chr9:77360192 [GRCh38]
Chr9:79975108 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1358-29A>G single nucleotide variant not provided [RCV001596145] Chr9:77227362 [GRCh38]
Chr9:79842278 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.989+74A>G single nucleotide variant not provided [RCV001560207] Chr9:77220457 [GRCh38]
Chr9:79835373 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2427+144_2427+150del deletion not provided [RCV001546028] Chr9:77260352..77260358 [GRCh38]
Chr9:79875268..79875274 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.101-62A>G single nucleotide variant Chorea-acanthocytosis [RCV001543932]|not provided [RCV001707902] Chr9:77199883 [GRCh38]
Chr9:79814799 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1596-31C>T single nucleotide variant Chorea-acanthocytosis [RCV001543936]|not provided [RCV001615272] Chr9:77237971 [GRCh38]
Chr9:79852887 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1452+222T>G single nucleotide variant not provided [RCV001594120] Chr9:77227707 [GRCh38]
Chr9:79842623 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5313+212A>C single nucleotide variant not provided [RCV001568659] Chr9:77318803 [GRCh38]
Chr9:79933719 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.556-10dup duplication not provided [RCV001560316] Chr9:77212951..77212952 [GRCh38]
Chr9:79827867..79827868 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.6379-22del deletion not provided [RCV001689207] Chr9:77339494 [GRCh38]
Chr9:79954410 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3119-253A>C single nucleotide variant not provided [RCV001561002] Chr9:77283102 [GRCh38]
Chr9:79898018 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp) single nucleotide variant Chorea-acanthocytosis [RCV001827508]|Inborn genetic diseases [RCV004039447]|not provided [RCV001576668] Chr9:77210625 [GRCh38]
Chr9:79825541 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.697-161C>T single nucleotide variant not provided [RCV001550560] Chr9:77214168 [GRCh38]
Chr9:79829084 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7288A>C (p.Ser2430Arg) single nucleotide variant not provided [RCV001532165] Chr9:77345141 [GRCh38]
Chr9:79960057 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7653-208C>T single nucleotide variant not provided [RCV001608598] Chr9:77356506 [GRCh38]
Chr9:79971422 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8554-66A>C single nucleotide variant not provided [RCV001688462] Chr9:77369233 [GRCh38]
Chr9:79984149 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9275+139G>C single nucleotide variant not provided [RCV001651573] Chr9:77403460 [GRCh38]
Chr9:80018376 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8553+170A>G single nucleotide variant not provided [RCV001621485] Chr9:77368306 [GRCh38]
Chr9:79983222 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2513-285A>G single nucleotide variant not provided [RCV001695837] Chr9:77275213 [GRCh38]
Chr9:79890129 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9399+171del deletion not provided [RCV001687876] Chr9:77406144 [GRCh38]
Chr9:80021060 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2428-181A>G single nucleotide variant not provided [RCV001687641] Chr9:77273099 [GRCh38]
Chr9:79888015 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.5313+62A>G single nucleotide variant not provided [RCV001572224] Chr9:77318653 [GRCh38]
Chr9:79933569 [GRCh37]
Chr9:9q21.2		 likely benign
NC_000009.12:g.77177103C>G single nucleotide variant not provided [RCV001655036] Chr9:77177103 [GRCh38]
Chr9:79792019 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.696+200dup duplication not provided [RCV001595991] Chr9:77213497..77213498 [GRCh38]
Chr9:79828413..79828414 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7953+135dup duplication not provided [RCV001619701] Chr9:77357952..77357953 [GRCh38]
Chr9:79972868..79972869 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.555+1G>A single nucleotide variant Chorea-acanthocytosis [RCV001009622] Chr9:77210676 [GRCh38]
Chr9:79825592 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.101-195G>T single nucleotide variant not provided [RCV001590526] Chr9:77199750 [GRCh38]
Chr9:79814666 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.754+273A>G single nucleotide variant not provided [RCV001658672] Chr9:77214659 [GRCh38]
Chr9:79829575 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2905-127TA[10] microsatellite not provided [RCV001620193] Chr9:77281739..77281740 [GRCh38]
Chr9:79896655..79896656 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8908-149dup duplication not provided [RCV001621559] Chr9:77370737..77370738 [GRCh38]
Chr9:79985653..79985654 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1161+134G>A single nucleotide variant not provided [RCV001677490] Chr9:77221490 [GRCh38]
Chr9:79836406 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2667+169T>A single nucleotide variant not provided [RCV001677532] Chr9:77275821 [GRCh38]
Chr9:79890737 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.4631-102T>C single nucleotide variant not provided [RCV001640845] Chr9:77316072 [GRCh38]
Chr9:79930988 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2427+150del deletion not provided [RCV001620381] Chr9:77260352 [GRCh38]
Chr9:79875268 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.4114+52C>T single nucleotide variant not provided [RCV001677586] Chr9:77308150 [GRCh38]
Chr9:79923066 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9475-3_9500dup duplication not provided [RCV001663667] Chr9:77415952..77415953 [GRCh38]
Chr9:80030868..80030869 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6095+258T>C single nucleotide variant not provided [RCV001650168] Chr9:77332371 [GRCh38]
Chr9:79947287 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.385+250_385+251insATA insertion not provided [RCV001688545] Chr9:77206329..77206330 [GRCh38]
Chr9:79821245..79821246 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7290-109G>A single nucleotide variant not provided [RCV001715345] Chr9:77351208 [GRCh38]
Chr9:79966124 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7420-14T>G single nucleotide variant not provided [RCV001652992] Chr9:77353395 [GRCh38]
Chr9:79968311 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6379-27del deletion not provided [RCV001688826] Chr9:77339489 [GRCh38]
Chr9:79954405 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2667+159C>T single nucleotide variant not provided [RCV001635566] Chr9:77275811 [GRCh38]
Chr9:79890727 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9400-169T>C single nucleotide variant not provided [RCV001650605] Chr9:77407364 [GRCh38]
Chr9:80022280 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9078-334C>T single nucleotide variant not provided [RCV001715189] Chr9:77381642 [GRCh38]
Chr9:79996558 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.989+256G>C single nucleotide variant not provided [RCV001598737] Chr9:77220639 [GRCh38]
Chr9:79835555 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.101-175_101-174del deletion not provided [RCV001693845] Chr9:77199769..77199770 [GRCh38]
Chr9:79814685..79814686 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3119-255A>G single nucleotide variant not provided [RCV001695158] Chr9:77283100 [GRCh38]
Chr9:79898016 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1452+246C>T single nucleotide variant not provided [RCV001684166] Chr9:77227731 [GRCh38]
Chr9:79842647 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.385+267C>T single nucleotide variant not provided [RCV001617446] Chr9:77206346 [GRCh38]
Chr9:79821262 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9077+297C>T single nucleotide variant not provided [RCV001658696] Chr9:77371446 [GRCh38]
Chr9:79986362 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.385+250_385+251del deletion not provided [RCV001693974] Chr9:77206325..77206326 [GRCh38]
Chr9:79821241..79821242 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1225-190A>C single nucleotide variant not provided [RCV001657050] Chr9:77226276 [GRCh38]
Chr9:79841192 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.386-337C>T single nucleotide variant not provided [RCV001620590] Chr9:77209086 [GRCh38]
Chr9:79824002 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val) single nucleotide variant Chorea-acanthocytosis [RCV001167733]|Inborn genetic diseases [RCV002557443]|not provided [RCV002558653] Chr9:77283429 [GRCh38]
Chr9:79898345 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys) single nucleotide variant Chorea-acanthocytosis [RCV001167807]|Inborn genetic diseases [RCV004032899]|not provided [RCV001559039] Chr9:77321224 [GRCh38]
Chr9:79936140 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.8668-3T>C single nucleotide variant Chorea-acanthocytosis [RCV001167952] Chr9:77370254 [GRCh38]
Chr9:79985170 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*990T>A single nucleotide variant Chorea-acanthocytosis [RCV001168028] Chr9:77416996 [GRCh38]
Chr9:80031912 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.854_858del (p.Asn285fs) microsatellite not provided [RCV001068827] Chr9:77220048..77220052 [GRCh38]
Chr9:79834964..79834968 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=) single nucleotide variant Chorea-acanthocytosis [RCV001169605]|not provided [RCV002067838] Chr9:77293421 [GRCh38]
Chr9:79908337 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val) single nucleotide variant Chorea-acanthocytosis [RCV001169608]|not provided [RCV002557466] Chr9:77295803 [GRCh38]
Chr9:79910719 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs) deletion Chorea-acanthocytosis [RCV001169883] Chr9:77293497..77293501 [GRCh38]
Chr9:79908413..79908417 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.667T>G (p.Phe223Val) single nucleotide variant Chorea-acanthocytosis [RCV001169518] Chr9:77213285 [GRCh38]
Chr9:79828201 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs) microsatellite Chorea-acanthocytosis [RCV003339453]|not provided [RCV001063421] Chr9:77323141..77323142 [GRCh38]
Chr9:79938057..79938058 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.7953+134_7953+135dup duplication not provided [RCV001713658] Chr9:77357952..77357953 [GRCh38]
Chr9:79972868..79972869 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8667+307A>G single nucleotide variant not provided [RCV001589340] Chr9:77369719 [GRCh38]
Chr9:79984635 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9474+152C>T single nucleotide variant not provided [RCV001669104] Chr9:77407759 [GRCh38]
Chr9:80022675 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2171-174C>T single nucleotide variant not provided [RCV001648905] Chr9:77252061 [GRCh38]
Chr9:79866977 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8553+227G>A single nucleotide variant not provided [RCV001724556] Chr9:77368363 [GRCh38]
Chr9:79983279 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.6378+130A>G single nucleotide variant not provided [RCV001713796] Chr9:77337667 [GRCh38]
Chr9:79952583 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9077+184A>G single nucleotide variant not provided [RCV001585394] Chr9:77371333 [GRCh38]
Chr9:79986249 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6096-221T>A single nucleotide variant not provided [RCV001611758] Chr9:77337034 [GRCh38]
Chr9:79951950 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3813-259A>G single nucleotide variant not provided [RCV001588696] Chr9:77302656 [GRCh38]
Chr9:79917572 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer) deletion Chorea-acanthocytosis [RCV001542675] Chr9:77213287..77213291 [GRCh38]
Chr9:79828203..79828207 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.9189+121T>C single nucleotide variant not provided [RCV001693530] Chr9:77382208 [GRCh38]
Chr9:79997124 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1224+165_1224+166insA insertion not provided [RCV001590318] Chr9:77226153..77226154 [GRCh38]
Chr9:79841069..79841070 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.883-92T>C single nucleotide variant not provided [RCV001671558] Chr9:77220185 [GRCh38]
Chr9:79835101 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1901-319A>G single nucleotide variant not provided [RCV001647868] Chr9:77246940 [GRCh38]
Chr9:79861856 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.616-83C>T single nucleotide variant not provided [RCV001611077] Chr9:77213151 [GRCh38]
Chr9:79828067 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7806+269A>G single nucleotide variant not provided [RCV001609336] Chr9:77357136 [GRCh38]
Chr9:79972052 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2824+100T>G single nucleotide variant not provided [RCV001614323] Chr9:77276321 [GRCh38]
Chr9:79891237 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2289-239A>G single nucleotide variant not provided [RCV001589968] Chr9:77259847 [GRCh38]
Chr9:79874763 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.615+20G>C single nucleotide variant Chorea-acanthocytosis [RCV001543933]|not provided [RCV001685482] Chr9:77213048 [GRCh38]
Chr9:79827964 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.616-47A>T single nucleotide variant Chorea-acanthocytosis [RCV001543934] Chr9:77213187 [GRCh38]
Chr9:79828103 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.883-16A>C single nucleotide variant Chorea-acanthocytosis [RCV001543935]|not provided [RCV001713004] Chr9:77220261 [GRCh38]
Chr9:79835177 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2171-69A>C single nucleotide variant not provided [RCV001681409] Chr9:77252166 [GRCh38]
Chr9:79867082 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.697-168A>G single nucleotide variant not provided [RCV001610200] Chr9:77214161 [GRCh38]
Chr9:79829077 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.385+76T>C single nucleotide variant not provided [RCV001583712] Chr9:77206155 [GRCh38]
Chr9:79821071 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7954-153C>T single nucleotide variant not provided [RCV001537148] Chr9:77358204 [GRCh38]
Chr9:79973120 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.100+225G>A single nucleotide variant not provided [RCV001643749] Chr9:77178029 [GRCh38]
Chr9:79792945 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2512+201G>A single nucleotide variant not provided [RCV001585065] Chr9:77273565 [GRCh38]
Chr9:79888481 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3118+41del deletion not provided [RCV001681543] Chr9:77282303 [GRCh38]
Chr9:79897219 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8472-300C>G single nucleotide variant not provided [RCV001714076] Chr9:77367755 [GRCh38]
Chr9:79982671 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3508-38A>G single nucleotide variant not provided [RCV001588215] Chr9:77295504 [GRCh38]
Chr9:79910420 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9189+2545TGA[12] microsatellite not provided [RCV001799809]|not specified [RCV001529482] Chr9:77384631..77384632 [GRCh38]
Chr9:79999547..79999548 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7156-328C>T single nucleotide variant not provided [RCV001587037] Chr9:77344681 [GRCh38]
Chr9:79959597 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7420-212A>G single nucleotide variant not provided [RCV001614972] Chr9:77353197 [GRCh38]
Chr9:79968113 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2905-124A>G single nucleotide variant not provided [RCV001537429] Chr9:77281743 [GRCh38]
Chr9:79896659 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2667+169dup duplication not provided [RCV001666765] Chr9:77275811..77275812 [GRCh38]
Chr9:79890727..79890728 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.5574+1G>A single nucleotide variant Chorea-acanthocytosis [RCV001833799]|not provided [RCV001204796] Chr9:77321328 [GRCh38]
Chr9:79936244 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys) single nucleotide variant Chorea-acanthocytosis [RCV001167090]|Inborn genetic diseases [RCV002558645]|not provided [RCV002559599] Chr9:77221289 [GRCh38]
Chr9:79836205 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*409A>G single nucleotide variant Chorea-acanthocytosis [RCV001167416] Chr9:77416415 [GRCh38]
Chr9:80031331 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*474G>A single nucleotide variant Chorea-acanthocytosis [RCV001167417] Chr9:77416480 [GRCh38]
Chr9:80031396 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*694C>A single nucleotide variant Chorea-acanthocytosis [RCV001167420] Chr9:77416700 [GRCh38]
Chr9:80031616 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.5191A>G (p.Ile1731Val) single nucleotide variant Chorea-acanthocytosis [RCV001167805] Chr9:77318469 [GRCh38]
Chr9:79933385 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val) single nucleotide variant Chorea-acanthocytosis [RCV001167735]|not provided [RCV001873554] Chr9:77283561 [GRCh38]
Chr9:79898477 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.9234T>C (p.His3078=) single nucleotide variant Chorea-acanthocytosis [RCV001169816]|not provided [RCV001397306] Chr9:77403280 [GRCh38]
Chr9:80018196 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.*1133A>C single nucleotide variant Chorea-acanthocytosis [RCV001168030] Chr9:77417139 [GRCh38]
Chr9:80032055 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8554-2A>T single nucleotide variant not provided [RCV001041659] Chr9:77369297 [GRCh38]
Chr9:79984213 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.218del (p.Asn73fs) deletion not provided [RCV001042837] Chr9:77205339 [GRCh38]
Chr9:79820255 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.-16A>T single nucleotide variant Chorea-acanthocytosis [RCV001168738] Chr9:77177689 [GRCh38]
Chr9:79792605 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*1458T>G single nucleotide variant Chorea-acanthocytosis [RCV001168802] Chr9:77417464 [GRCh38]
Chr9:80032380 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.*1194A>C single nucleotide variant Chorea-acanthocytosis [RCV001168801] Chr9:77417200 [GRCh38]
Chr9:80032116 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) single nucleotide variant Chorea-acanthocytosis [RCV001333419]|not provided [RCV001035586] Chr9:77382007 [GRCh38]
Chr9:79996923 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.587A>G (p.His196Arg) single nucleotide variant Chorea-acanthocytosis [RCV001169515] Chr9:77213000 [GRCh38]
Chr9:79827916 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met) single nucleotide variant Chorea-acanthocytosis [RCV001165556]|Inborn genetic diseases [RCV004032879] Chr9:77273327 [GRCh38]
Chr9:79888243 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.2667+4G>A single nucleotide variant Chorea-acanthocytosis [RCV001165557]|not provided [RCV002558609] Chr9:77275656 [GRCh38]
Chr9:79890572 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2723T>A (p.Ile908Asn) single nucleotide variant Chorea-acanthocytosis [RCV001165560] Chr9:77276120 [GRCh38]
Chr9:79891036 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2456C>G (p.Ser819Ter) single nucleotide variant not provided [RCV001218144] Chr9:77273308 [GRCh38]
Chr9:79888224 [GRCh37]
Chr9:9q21.2		 pathogenic
NC_000009.12:g.(?_77250087)_(77252362_?)del deletion not provided [RCV001032445] Chr9:79865003..79867278 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.1305del (p.Trp435fs) deletion not provided [RCV001210711] Chr9:77226545 [GRCh38]
Chr9:79841461 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) microsatellite Chorea-acanthocytosis [RCV001835280]|not provided [RCV001246757] Chr9:77405870..77405871 [GRCh38]
Chr9:80020786..80020787 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs) insertion Chorea-acanthocytosis [RCV001195595]|not provided [RCV001863087] Chr9:77252316..77252317 [GRCh38]
Chr9:79867232..79867233 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_033305.3(VPS13A):c.5156G>T (p.Gly1719Val) single nucleotide variant Chorea-acanthocytosis [RCV001167804] Chr9:77318434 [GRCh38]
Chr9:79933350 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6667C>T (p.Arg2223Cys) single nucleotide variant Chorea-acanthocytosis [RCV001167874] Chr9:77339804 [GRCh38]
Chr9:79954720 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.8472-11G>T single nucleotide variant Chorea-acanthocytosis [RCV001167951]|not provided [RCV003737017] Chr9:77368044 [GRCh38]
Chr9:79982960 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=) single nucleotide variant Chorea-acanthocytosis [RCV001165555]|not provided [RCV001421067] Chr9:77273306 [GRCh38]
Chr9:79888222 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.2667+12G>A single nucleotide variant Chorea-acanthocytosis [RCV001165558]|not provided [RCV001593303] Chr9:77275664 [GRCh38]
Chr9:79890580 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met) single nucleotide variant Chorea-acanthocytosis [RCV001165633]|Inborn genetic diseases [RCV002558611]|not provided [RCV001760115] Chr9:77308001 [GRCh38]
Chr9:79922917 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.*182G>A single nucleotide variant Chorea-acanthocytosis [RCV001165844] Chr9:77416188 [GRCh38]
Chr9:80031104 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.2(VPS13A):c.-264G>C single nucleotide variant Chorea-acanthocytosis [RCV001167028] Chr9:77177441 [GRCh38]
Chr9:79792357 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2783C>A (p.Ala928Asp) single nucleotide variant Chorea-acanthocytosis [RCV001167154] Chr9:77276180 [GRCh38]
Chr9:79891096 [GRCh37]
Chr9:9q21.2		 uncertain significance
NC_000009.12:g.(?_77212959)_(77213324_?)del deletion not provided [RCV001032144] Chr9:79827875..79828240 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.8554-1G>A single nucleotide variant not provided [RCV001067076] Chr9:77369298 [GRCh38]
Chr9:79984214 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His) single nucleotide variant Chorea-acanthocytosis [RCV001253895]|not provided [RCV003442816] Chr9:77250195 [GRCh38]
Chr9:79865111 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6379-17T>G single nucleotide variant not provided [RCV001528220] Chr9:77339499 [GRCh38]
Chr9:79954415 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.5761C>T (p.Arg1921Ter) single nucleotide variant not provided [RCV001268247] Chr9:77321677 [GRCh38]
Chr9:79936593 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.6973A>G (p.Ile2325Val) single nucleotide variant Inborn genetic diseases [RCV003161064]|not provided [RCV001529137] Chr9:77340497 [GRCh38]
Chr9:79955413 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.989+28dup duplication not specified [RCV001530017] Chr9:77220396..77220397 [GRCh38]
Chr9:79835312..79835313 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp) single nucleotide variant Chorea-acanthocytosis [RCV001277441] Chr9:77250148 [GRCh38]
Chr9:79865064 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.2783C>T (p.Ala928Val) single nucleotide variant Chorea-acanthocytosis [RCV001277442] Chr9:77276180 [GRCh38]
Chr9:79891096 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3556A>G (p.Thr1186Ala) single nucleotide variant Chorea-acanthocytosis [RCV001277444] Chr9:77295590 [GRCh38]
Chr9:79910506 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.5753A>G (p.Asp1918Gly) single nucleotide variant Chorea-acanthocytosis [RCV001277452] Chr9:77321669 [GRCh38]
Chr9:79936585 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.2(chr9:79706373-79971001)x3 copy number gain not provided [RCV001258439] Chr9:79706373..79971001 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.4957-260_4957-251del deletion not provided [RCV001581218] Chr9:77317975..77317984 [GRCh38]
Chr9:79932891..79932900 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3960+31G>A single nucleotide variant not provided [RCV001581335] Chr9:77303093 [GRCh38]
Chr9:79918009 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter) single nucleotide variant Chorea-acanthocytosis [RCV001329572]|not provided [RCV002546336] Chr9:77260123 [GRCh38]
Chr9:79875039 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val) single nucleotide variant Chorea-acanthocytosis [RCV001830109]|not provided [RCV001289417] Chr9:77365481 [GRCh38]
Chr9:79980397 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala) single nucleotide variant Chorea-acanthocytosis [RCV001835478]|not provided [RCV001305302] Chr9:77318319 [GRCh38]
Chr9:79933235 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.283+113A>G single nucleotide variant not provided [RCV001581322] Chr9:77205521 [GRCh38]
Chr9:79820437 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1236T>C (p.Ala412=) single nucleotide variant not provided [RCV001396516] Chr9:77226477 [GRCh38]
Chr9:79841393 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.616-4T>C single nucleotide variant not provided [RCV001422215] Chr9:77213230 [GRCh38]
Chr9:79828146 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4314T>C (p.Thr1438=) single nucleotide variant not provided [RCV001433847] Chr9:77314566 [GRCh38]
Chr9:79929482 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1479C>T (p.His493=) single nucleotide variant not provided [RCV001415182] Chr9:77228148 [GRCh38]
Chr9:79843064 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6096-5T>C single nucleotide variant not provided [RCV001433109] Chr9:77337250 [GRCh38]
Chr9:79952166 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3429T>C (p.Asn1143=) single nucleotide variant not provided [RCV001422594] Chr9:77293430 [GRCh38]
Chr9:79908346 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2733A>G (p.Leu911=) single nucleotide variant not provided [RCV001422323] Chr9:77276130 [GRCh38]
Chr9:79891046 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2769T>C (p.Asp923=) single nucleotide variant not provided [RCV001412778] Chr9:77276166 [GRCh38]
Chr9:79891082 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7191G>A (p.Glu2397=) single nucleotide variant not provided [RCV001395036] Chr9:77345044 [GRCh38]
Chr9:79959960 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8211+3_8211+8dup duplication not provided [RCV001396962] Chr9:77360642..77360643 [GRCh38]
Chr9:79975558..79975559 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg) single nucleotide variant Chorea-acanthocytosis [RCV001277455]|not provided [RCV004778041] Chr9:77344255 [GRCh38]
Chr9:79959171 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7662G>A (p.Val2554=) single nucleotide variant not provided [RCV001394453] Chr9:77356723 [GRCh38]
Chr9:79971639 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6228A>G (p.Ser2076=) single nucleotide variant not provided [RCV001396546] Chr9:77337387 [GRCh38]
Chr9:79952303 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu) single nucleotide variant Chorea-acanthocytosis [RCV002476639]|not provided [RCV001357634] Chr9:77318524 [GRCh38]
Chr9:79933440 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7897G>A (p.Glu2633Lys) single nucleotide variant not provided [RCV001354310] Chr9:77357782 [GRCh38]
Chr9:79972698 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8931A>C (p.Gly2977=) single nucleotide variant not provided [RCV001414785] Chr9:77370913 [GRCh38]
Chr9:79985829 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3627G>C (p.Leu1209=) single nucleotide variant not provided [RCV001392008] Chr9:77295661 [GRCh38]
Chr9:79910577 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7197T>C (p.Ser2399=) single nucleotide variant not provided [RCV001421311] Chr9:77345050 [GRCh38]
Chr9:79959966 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1149C>T (p.Leu383=) single nucleotide variant not provided [RCV001395727] Chr9:77221344 [GRCh38]
Chr9:79836260 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1302A>G (p.Leu434=) single nucleotide variant not provided [RCV001421517] Chr9:77226543 [GRCh38]
Chr9:79841459 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1170A>G (p.Glu390=) single nucleotide variant not provided [RCV001413715] Chr9:77225934 [GRCh38]
Chr9:79840850 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4398G>A (p.Lys1466=) single nucleotide variant not provided [RCV001392064] Chr9:77314650 [GRCh38]
Chr9:79929566 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1602A>G (p.Glu534=) single nucleotide variant not provided [RCV001423066] Chr9:77238008 [GRCh38]
Chr9:79852924 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9078-1G>C single nucleotide variant not provided [RCV001377184] Chr9:77381975 [GRCh38]
Chr9:79996891 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.6843A>G (p.Gly2281=) single nucleotide variant not provided [RCV001413913] Chr9:77340246 [GRCh38]
Chr9:79955162 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3236-2A>G single nucleotide variant not provided [RCV001377962] Chr9:77283545 [GRCh38]
Chr9:79898461 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) single nucleotide variant Chorea-acanthocytosis [RCV002493921]|not provided [RCV001381121] Chr9:77366776 [GRCh38]
Chr9:79981692 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_033305.3(VPS13A):c.6841G>T (p.Gly2281Ter) single nucleotide variant not provided [RCV001383473] Chr9:77340244 [GRCh38]
Chr9:79955160 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.9429_9432del (p.Arg3143fs) microsatellite not provided [RCV001385334] Chr9:77407560..77407563 [GRCh38]
Chr9:80022476..80022479 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.3394del (p.Asp1132fs) deletion not provided [RCV001386191] Chr9:77293394 [GRCh38]
Chr9:79908310 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.1313C>G (p.Ser438Ter) single nucleotide variant not provided [RCV001388317] Chr9:77226554 [GRCh38]
Chr9:79841470 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.2043G>A (p.Thr681=) single nucleotide variant not provided [RCV001397523] Chr9:77250102 [GRCh38]
Chr9:79865018 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.72dup (p.Ser25fs) duplication not provided [RCV001389536] Chr9:77177775..77177776 [GRCh38]
Chr9:79792691..79792692 [GRCh37]
Chr9:9q21.2		 pathogenic
NC_000009.12:g.77337257_77337282del deletion not provided [RCV001389797] Chr9:77337253..77337278 [GRCh38]
Chr9:79952169..79952194 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.994del (p.Ala332fs) deletion not provided [RCV001390117] Chr9:77221187 [GRCh38]
Chr9:79836103 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.3481dup (p.Val1161fs) duplication not provided [RCV001390333] Chr9:77293481..77293482 [GRCh38]
Chr9:79908397..79908398 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.78dup (p.Leu27fs) duplication not provided [RCV001391019] Chr9:77177781..77177782 [GRCh38]
Chr9:79792697..79792698 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.2286C>T (p.Pro762=) single nucleotide variant not provided [RCV001421948] Chr9:77252350 [GRCh38]
Chr9:79867266 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4864-291A>G single nucleotide variant not provided [RCV001536348] Chr9:77317315 [GRCh38]
Chr9:79932231 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5559A>G (p.Leu1853=) single nucleotide variant not provided [RCV001414662] Chr9:77321312 [GRCh38]
Chr9:79936228 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3267A>C (p.Ser1089=) single nucleotide variant not provided [RCV001415081] Chr9:77283578 [GRCh38]
Chr9:79898494 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.989+8C>G single nucleotide variant not provided [RCV001392302] Chr9:77220391 [GRCh38]
Chr9:79835307 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3423T>C (p.Asp1141=) single nucleotide variant not provided [RCV001422710] Chr9:77293424 [GRCh38]
Chr9:79908340 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=) single nucleotide variant Chorea-acanthocytosis [RCV001329573] Chr9:77318435 [GRCh38]
Chr9:79933351 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter) single nucleotide variant Chorea-acanthocytosis [RCV001329575] Chr9:77340221 [GRCh38]
Chr9:79955137 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=) single nucleotide variant Chorea-acanthocytosis [RCV001277448]|not provided [RCV001506600] Chr9:77315310 [GRCh38]
Chr9:79930226 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.116A>G (p.Lys39Arg) single nucleotide variant Chorea-acanthocytosis [RCV001277439]|not specified [RCV004690044] Chr9:77199960 [GRCh38]
Chr9:79814876 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.1783G>T (p.Ala595Ser) single nucleotide variant Chorea-acanthocytosis [RCV001277440] Chr9:77238189 [GRCh38]
Chr9:79853105 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3658A>C (p.Ile1220Leu) single nucleotide variant Chorea-acanthocytosis [RCV001277445] Chr9:77295692 [GRCh38]
Chr9:79910608 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.5248C>T (p.Arg1750Cys) single nucleotide variant Chorea-acanthocytosis [RCV001277451] Chr9:77318526 [GRCh38]
Chr9:79933442 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.5898A>G (p.Val1966=) single nucleotide variant Chorea-acanthocytosis [RCV001277453]|not provided [RCV001403137] Chr9:77323134 [GRCh38]
Chr9:79938050 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn) single nucleotide variant Chorea-acanthocytosis [RCV001329574]|not provided [RCV002546337] Chr9:77321681 [GRCh38]
Chr9:79936597 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7486C>T (p.Gln2496Ter) single nucleotide variant not provided [RCV001380373] Chr9:77353475 [GRCh38]
Chr9:79968391 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.4863+10C>T single nucleotide variant not provided [RCV001413713] Chr9:77316416 [GRCh38]
Chr9:79931332 [GRCh37]
Chr9:9q21.2		 likely benign
NC_000009.11:g.(?_79814851)_(79843190_?)dup duplication not provided [RCV001376845] Chr9:79814851..79843190 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.8105+1G>A single nucleotide variant not provided [RCV001377078] Chr9:77359403 [GRCh38]
Chr9:79974319 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.8954-8C>A single nucleotide variant not provided [RCV001394684] Chr9:77371018 [GRCh38]
Chr9:79985934 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9275+1G>A single nucleotide variant not provided [RCV001377521] Chr9:77403322 [GRCh38]
Chr9:80018238 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NC_000009.11:g.(?_79982961)_(79999609_?)del deletion not provided [RCV001380367] Chr9:79982961..79999609 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.2336dup (p.Asp779fs) duplication not provided [RCV001381424] Chr9:77260132..77260133 [GRCh38]
Chr9:79875048..79875049 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.1881dup (p.Arg628fs) duplication not provided [RCV001382001] Chr9:77238364..77238365 [GRCh38]
Chr9:79853280..79853281 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.4692_4693del (p.Phe1565fs) microsatellite not provided [RCV001387806] Chr9:77316232..77316233 [GRCh38]
Chr9:79931148..79931149 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.7919_7920del (p.Gln2640fs) deletion not provided [RCV001388490] Chr9:77357804..77357805 [GRCh38]
Chr9:79972720..79972721 [GRCh37]
Chr9:9q21.2		 pathogenic
NC_000009.11:g.(?_79851768)_79854605del deletion not provided [RCV001390757]   pathogenic
NM_033305.3(VPS13A):c.2982G>C (p.Leu994Phe) single nucleotide variant Chorea-acanthocytosis [RCV001277443] Chr9:77282138 [GRCh38]
Chr9:79897054 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.5003T>G (p.Leu1668Arg) single nucleotide variant Chorea-acanthocytosis [RCV001277450] Chr9:77318281 [GRCh38]
Chr9:79933197 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile) single nucleotide variant Chorea-acanthocytosis [RCV001277456]|not provided [RCV003236887] Chr9:77345126 [GRCh38]
Chr9:79960042 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.5487T>C (p.Tyr1829=) single nucleotide variant not provided [RCV001396421] Chr9:77321240 [GRCh38]
Chr9:79936156 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.219C>T (p.Asn73=) single nucleotide variant not provided [RCV001394768] Chr9:77205344 [GRCh38]
Chr9:79820260 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7464A>G (p.Leu2488=) single nucleotide variant not provided [RCV001414211] Chr9:77353453 [GRCh38]
Chr9:79968369 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5115A>G (p.Glu1705=) single nucleotide variant not provided [RCV001422080] Chr9:77318393 [GRCh38]
Chr9:79933309 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1596-6dup duplication not provided [RCV001414231] Chr9:77237994..77237995 [GRCh38]
Chr9:79852910..79852911 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8939_8942del (p.Thr2980fs) deletion not provided [RCV001387070] Chr9:77370920..77370923 [GRCh38]
Chr9:79985836..79985839 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.1869del (p.Lys623fs) deletion not provided [RCV001388917] Chr9:77238352 [GRCh38]
Chr9:79853268 [GRCh37]
Chr9:9q21.2		 pathogenic
NC_000009.11:g.(?_79952161)_(79959207_?)del deletion not provided [RCV001390758] Chr9:79952161..79959207 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.9366T>C (p.Ile3122=) single nucleotide variant not provided [RCV001394681] Chr9:77405954 [GRCh38]
Chr9:80020870 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7158T>G (p.Leu2386=) single nucleotide variant not provided [RCV001421317] Chr9:77345011 [GRCh38]
Chr9:79959927 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6379-7dup duplication not provided [RCV001422124] Chr9:77339508..77339509 [GRCh38]
Chr9:79954424..79954425 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.963G>T (p.Val321=) single nucleotide variant not provided [RCV001421381] Chr9:77220357 [GRCh38]
Chr9:79835273 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6678G>A (p.Gln2226=) single nucleotide variant not provided [RCV001421392] Chr9:77339815 [GRCh38]
Chr9:79954731 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8286A>G (p.Gln2762=) single nucleotide variant not provided [RCV001493787] Chr9:77365534 [GRCh38]
Chr9:79980450 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5024dup (p.Glu1677fs) duplication not provided [RCV001382736] Chr9:77318301..77318302 [GRCh38]
Chr9:79933217..79933218 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter) single nucleotide variant Chorea-acanthocytosis [RCV002283545]|not provided [RCV001383258] Chr9:77283468 [GRCh38]
Chr9:79898384 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.1304_1313del (p.Leu434_Trp435insTer) deletion not provided [RCV001386375] Chr9:77226545..77226554 [GRCh38]
Chr9:79841461..79841470 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.2428-9T>A single nucleotide variant not provided [RCV001395069] Chr9:77273271 [GRCh38]
Chr9:79888187 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9465G>A (p.Glu3155=) single nucleotide variant not provided [RCV001395162] Chr9:77407598 [GRCh38]
Chr9:80022514 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8301del (p.Glu2767fs) deletion not provided [RCV001383092] Chr9:77365548 [GRCh38]
Chr9:79980464 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.7154_7155insAGTA (p.Leu2386fs) insertion not provided [RCV001386074] Chr9:77344279..77344280 [GRCh38]
Chr9:79959195..79959196 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.7005G>A (p.Trp2335Ter) single nucleotide variant not provided [RCV001382541] Chr9:77340529 [GRCh38]
Chr9:79955445 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.6392C>A (p.Ser2131Ter) single nucleotide variant not provided [RCV001386050] Chr9:77339529 [GRCh38]
Chr9:79954445 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.4284del (p.Glu1429fs) deletion not provided [RCV001387065] Chr9:77314536 [GRCh38]
Chr9:79929452 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_033305.3(VPS13A):c.822C>T (p.Ala274=) single nucleotide variant not provided [RCV001421762] Chr9:77220021 [GRCh38]
Chr9:79834937 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9474+9A>G single nucleotide variant not provided [RCV001413245] Chr9:77407616 [GRCh38]
Chr9:80022532 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2668-4C>T single nucleotide variant not provided [RCV001413019] Chr9:77276061 [GRCh38]
Chr9:79890977 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8668-1G>A single nucleotide variant Chorea-acanthocytosis [RCV001831343]|not provided [RCV001377486] Chr9:77370256 [GRCh38]
Chr9:79985172 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.495+1G>A single nucleotide variant not provided [RCV001377520] Chr9:77209533 [GRCh38]
Chr9:79824449 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.2427+1G>A single nucleotide variant not provided [RCV001379763] Chr9:77260225 [GRCh38]
Chr9:79875141 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.5700C>T (p.Asn1900=) single nucleotide variant not provided [RCV001472936] Chr9:77321616 [GRCh38]
Chr9:79936532 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.690C>T (p.Asn230=) single nucleotide variant not provided [RCV001472978] Chr9:77213308 [GRCh38]
Chr9:79828224 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.696+8A>T single nucleotide variant not provided [RCV001492124] Chr9:77213322 [GRCh38]
Chr9:79828238 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4864-4A>T single nucleotide variant not provided [RCV001457513] Chr9:77317602 [GRCh38]
Chr9:79932518 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1011C>T (p.Gly337=) single nucleotide variant not provided [RCV001505432] Chr9:77221206 [GRCh38]
Chr9:79836122 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7806+8T>C single nucleotide variant not provided [RCV001402049] Chr9:77356875 [GRCh38]
Chr9:79971791 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3912C>T (p.Tyr1304=) single nucleotide variant not provided [RCV001430190] Chr9:77303014 [GRCh38]
Chr9:79917930 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5790A>C (p.Ala1930=) single nucleotide variant not provided [RCV001501724] Chr9:77321706 [GRCh38]
Chr9:79936622 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9C>T (p.Phe3=) single nucleotide variant not provided [RCV001466762] Chr9:77177713 [GRCh38]
Chr9:79792629 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9231C>A (p.Thr3077=) single nucleotide variant not provided [RCV001468287] Chr9:77403277 [GRCh38]
Chr9:80018193 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6627G>T (p.Val2209=) single nucleotide variant not provided [RCV001468288] Chr9:77339764 [GRCh38]
Chr9:79954680 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3474A>C (p.Val1158=) single nucleotide variant not provided [RCV001402279] Chr9:77293475 [GRCh38]
Chr9:79908391 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8668-10G>C single nucleotide variant Chorea-acanthocytosis [RCV001826288]|not provided [RCV001458580] Chr9:77370247 [GRCh38]
Chr9:79985163 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1704A>G (p.Thr568=) single nucleotide variant not provided [RCV001499580] Chr9:77238110 [GRCh38]
Chr9:79853026 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1452+7T>C single nucleotide variant not provided [RCV001499607] Chr9:77227492 [GRCh38]
Chr9:79842408 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3177G>A (p.Ser1059=) single nucleotide variant not provided [RCV001457553] Chr9:77283413 [GRCh38]
Chr9:79898329 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4854A>G (p.Lys1618=) single nucleotide variant not provided [RCV001487721] Chr9:77316397 [GRCh38]
Chr9:79931313 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3624A>C (p.Ala1208=) single nucleotide variant not provided [RCV001473528] Chr9:77295658 [GRCh38]
Chr9:79910574 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2824+9C>A single nucleotide variant not provided [RCV001473585] Chr9:77276230 [GRCh38]
Chr9:79891146 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5454T>C (p.Asp1818=) single nucleotide variant not provided [RCV001490866] Chr9:77321207 [GRCh38]
Chr9:79936123 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.64T>C (p.Leu22=) single nucleotide variant not provided [RCV001475295] Chr9:77177768 [GRCh38]
Chr9:79792684 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4839C>T (p.Val1613=) single nucleotide variant not provided [RCV001475314] Chr9:77316382 [GRCh38]
Chr9:79931298 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4095T>C (p.Asn1365=) single nucleotide variant not provided [RCV001496166] Chr9:77308079 [GRCh38]
Chr9:79922995 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8703A>C (p.Gly2901=) single nucleotide variant not provided [RCV001496364] Chr9:77370292 [GRCh38]
Chr9:79985208 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5880A>G (p.Gly1960=) single nucleotide variant not provided [RCV001465545] Chr9:77323116 [GRCh38]
Chr9:79938032 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9400-8G>A single nucleotide variant not provided [RCV001461515] Chr9:77407525 [GRCh38]
Chr9:80022441 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1782T>C (p.Asp594=) single nucleotide variant not provided [RCV001504828] Chr9:77238188 [GRCh38]
Chr9:79853104 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6936C>T (p.Thr2312=) single nucleotide variant not provided [RCV001470793] Chr9:77340460 [GRCh38]
Chr9:79955376 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6366T>C (p.Ala2122=) single nucleotide variant not provided [RCV001470919] Chr9:77337525 [GRCh38]
Chr9:79952441 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4365C>T (p.Asn1455=) single nucleotide variant not provided [RCV001491090] Chr9:77314617 [GRCh38]
Chr9:79929533 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6339C>T (p.Leu2113=) single nucleotide variant VPS13A-related disorder [RCV003938832]|not provided [RCV001465721] Chr9:77337498 [GRCh38]
Chr9:79952414 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7485A>G (p.Leu2495=) single nucleotide variant not provided [RCV001451539] Chr9:77353474 [GRCh38]
Chr9:79968390 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1548A>G (p.Glu516=) single nucleotide variant not provided [RCV001496334] Chr9:77228217 [GRCh38]
Chr9:79843133 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5256A>G (p.Ser1752=) single nucleotide variant not provided [RCV001478984] Chr9:77318534 [GRCh38]
Chr9:79933450 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4827G>A (p.Pro1609=) single nucleotide variant not provided [RCV001479050] Chr9:77316370 [GRCh38]
Chr9:79931286 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5631A>G (p.Pro1877=) single nucleotide variant not provided [RCV001471181] Chr9:77321547 [GRCh38]
Chr9:79936463 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3813-10C>G single nucleotide variant not provided [RCV001471183] Chr9:77302905 [GRCh38]
Chr9:79917821 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7755T>G (p.Thr2585=) single nucleotide variant not provided [RCV001465938] Chr9:77356816 [GRCh38]
Chr9:79971732 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=) single nucleotide variant Chorea-acanthocytosis [RCV001832630]|not provided [RCV001483232] Chr9:77382003 [GRCh38]
Chr9:79996919 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5574+9dup duplication not provided [RCV001483244] Chr9:77321332..77321333 [GRCh38]
Chr9:79936248..79936249 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7932A>G (p.Arg2644=) single nucleotide variant not provided [RCV001436609] Chr9:77357817 [GRCh38]
Chr9:79972733 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7989T>C (p.Phe2663=) single nucleotide variant not provided [RCV001405386] Chr9:77358392 [GRCh38]
Chr9:79973308 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7290-7G>A single nucleotide variant not provided [RCV001461811] Chr9:77351310 [GRCh38]
Chr9:79966226 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4797C>T (p.Ala1599=) single nucleotide variant not provided [RCV001461963] Chr9:77316340 [GRCh38]
Chr9:79931256 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1938T>C (p.Asp646=) single nucleotide variant not provided [RCV001485016] Chr9:77247296 [GRCh38]
Chr9:79862212 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2865T>C (p.Asp955=) single nucleotide variant not provided [RCV001471295] Chr9:77280199 [GRCh38]
Chr9:79895115 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6693A>G (p.Gly2231=) single nucleotide variant not provided [RCV001462957] Chr9:77339830 [GRCh38]
Chr9:79954746 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1617A>T (p.Ser539=) single nucleotide variant not provided [RCV001436912] Chr9:77238023 [GRCh38]
Chr9:79852939 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.385+10A>G single nucleotide variant not provided [RCV001405457] Chr9:77206089 [GRCh38]
Chr9:79821005 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2406T>G (p.Ser802=) single nucleotide variant not provided [RCV001499595] Chr9:77260203 [GRCh38]
Chr9:79875119 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.681T>C (p.Asp227=) single nucleotide variant not provided [RCV001455408] Chr9:77213299 [GRCh38]
Chr9:79828215 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8106-9G>A single nucleotide variant not provided [RCV001488824] Chr9:77360527 [GRCh38]
Chr9:79975443 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1185C>T (p.Val395=) single nucleotide variant not provided [RCV001474286] Chr9:77225949 [GRCh38]
Chr9:79840865 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.696+286A>G single nucleotide variant not provided [RCV001538368] Chr9:77213600 [GRCh38]
Chr9:79828516 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.4746A>G (p.Gln1582=) single nucleotide variant not provided [RCV001428653] Chr9:77316289 [GRCh38]
Chr9:79931205 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1320A>G (p.Gln440=) single nucleotide variant not provided [RCV001462912] Chr9:77226561 [GRCh38]
Chr9:79841477 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8954-4C>G single nucleotide variant not provided [RCV001482996] Chr9:77371022 [GRCh38]
Chr9:79985938 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5314-4G>C single nucleotide variant not provided [RCV001471847] Chr9:77319568 [GRCh38]
Chr9:79934484 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6798T>C (p.Ser2266=) single nucleotide variant not provided [RCV001489130] Chr9:77340201 [GRCh38]
Chr9:79955117 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.645T>C (p.Tyr215=) single nucleotide variant not provided [RCV001442312] Chr9:77213263 [GRCh38]
Chr9:79828179 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4032T>C (p.Asp1344=) single nucleotide variant not provided [RCV001393014] Chr9:77308016 [GRCh38]
Chr9:79922932 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.755-9A>G single nucleotide variant not provided [RCV001503468] Chr9:77219945 [GRCh38]
Chr9:79834861 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9516G>A (p.Pro3172=) single nucleotide variant not provided [RCV001471864] Chr9:77415997 [GRCh38]
Chr9:80030913 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.606G>C (p.Leu202=) single nucleotide variant not provided [RCV001474446] Chr9:77213019 [GRCh38]
Chr9:79827935 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9474+291AATT[3] microsatellite not provided [RCV001539207] Chr9:77407897..77407898 [GRCh38]
Chr9:80022813..80022814 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3237G>A (p.Gly1079=) single nucleotide variant not provided [RCV001470327] Chr9:77283548 [GRCh38]
Chr9:79898464 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7002A>G (p.Lys2334=) single nucleotide variant not provided [RCV001470337] Chr9:77340526 [GRCh38]
Chr9:79955442 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5889G>A (p.Leu1963=) single nucleotide variant not provided [RCV001415997] Chr9:77323125 [GRCh38]
Chr9:79938041 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.633C>T (p.Asn211=) single nucleotide variant not provided [RCV001500818] Chr9:77213251 [GRCh38]
Chr9:79828167 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.975C>T (p.His325=) single nucleotide variant not provided [RCV001501569] Chr9:77220369 [GRCh38]
Chr9:79835285 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.187+8A>G single nucleotide variant not provided [RCV001484463] Chr9:77201415 [GRCh38]
Chr9:79816331 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6711A>C (p.Pro2237=) single nucleotide variant not provided [RCV001470424] Chr9:77339848 [GRCh38]
Chr9:79954764 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7290-8T>C single nucleotide variant not provided [RCV001423663] Chr9:77351309 [GRCh38]
Chr9:79966225 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4491G>T (p.Val1497=) single nucleotide variant not provided [RCV001406250] Chr9:77315331 [GRCh38]
Chr9:79930247 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9333T>C (p.Tyr3111=) single nucleotide variant not provided [RCV001466543] Chr9:77405921 [GRCh38]
Chr9:80020837 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.606G>A (p.Leu202=) single nucleotide variant not provided [RCV001506207] Chr9:77213019 [GRCh38]
Chr9:79827935 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=) single nucleotide variant Chorea-acanthocytosis [RCV001826327]|not provided [RCV001493402] Chr9:77340508 [GRCh38]
Chr9:79955424 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.756A>G (p.Val252=) single nucleotide variant not provided [RCV001464161] Chr9:77219955 [GRCh38]
Chr9:79834871 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6774+7G>A single nucleotide variant not provided [RCV001505016] Chr9:77339918 [GRCh38]
Chr9:79954834 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.471T>C (p.Ser157=) single nucleotide variant not provided [RCV001393472] Chr9:77209508 [GRCh38]
Chr9:79824424 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1443A>G (p.Leu481=) single nucleotide variant not provided [RCV001423992] Chr9:77227476 [GRCh38]
Chr9:79842392 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5775T>C (p.Asn1925=) single nucleotide variant not provided [RCV001401486] Chr9:77321691 [GRCh38]
Chr9:79936607 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6379-10T>A single nucleotide variant not provided [RCV001416276] Chr9:77339506 [GRCh38]
Chr9:79954422 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1595+7A>G single nucleotide variant not provided [RCV001463826] Chr9:77228271 [GRCh38]
Chr9:79843187 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8392C>T (p.Leu2798=) single nucleotide variant not provided [RCV001478456] Chr9:77366793 [GRCh38]
Chr9:79981709 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8208A>G (p.Thr2736=) single nucleotide variant not provided [RCV001438049] Chr9:77360638 [GRCh38]
Chr9:79975554 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2364G>A (p.Leu788=) single nucleotide variant not provided [RCV001477528] Chr9:77260161 [GRCh38]
Chr9:79875077 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5826T>G (p.Leu1942=) single nucleotide variant not provided [RCV001393857] Chr9:77321742 [GRCh38]
Chr9:79936658 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8443C>T (p.Leu2815=) single nucleotide variant not provided [RCV001489960] Chr9:77366844 [GRCh38]
Chr9:79981760 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1683A>G (p.Ala561=) single nucleotide variant not provided [RCV001493682] Chr9:77238089 [GRCh38]
Chr9:79853005 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1786-10A>G single nucleotide variant not provided [RCV001478772] Chr9:77238262 [GRCh38]
Chr9:79853178 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2288+242T>C single nucleotide variant not provided [RCV001528060] Chr9:77252594 [GRCh38]
Chr9:79867510 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2211C>A (p.Thr737=) single nucleotide variant not provided [RCV001428594] Chr9:77252275 [GRCh38]
Chr9:79867191 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.888C>T (p.Phe296=) single nucleotide variant not provided [RCV001409292] Chr9:77220282 [GRCh38]
Chr9:79835198 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7290-10A>C single nucleotide variant not provided [RCV001402172] Chr9:77351307 [GRCh38]
Chr9:79966223 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5394A>G (p.Arg1798=) single nucleotide variant not provided [RCV001441034] Chr9:77319652 [GRCh38]
Chr9:79934568 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3357A>C (p.Gly1119=) single nucleotide variant not provided [RCV001409411] Chr9:77293358 [GRCh38]
Chr9:79908274 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5013T>G (p.Thr1671=) single nucleotide variant not provided [RCV001411952] Chr9:77318291 [GRCh38]
Chr9:79933207 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3417C>T (p.Tyr1139=) single nucleotide variant not provided [RCV001448680] Chr9:77293418 [GRCh38]
Chr9:79908334 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.100+8G>C single nucleotide variant not provided [RCV001404430] Chr9:77177812 [GRCh38]
Chr9:79792728 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3726C>G (p.Thr1242=) single nucleotide variant not provided [RCV001443442] Chr9:77295760 [GRCh38]
Chr9:79910676 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2640A>G (p.Thr880=) single nucleotide variant not provided [RCV001409382] Chr9:77275625 [GRCh38]
Chr9:79890541 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3834A>C (p.Ala1278=) single nucleotide variant not provided [RCV001446066] Chr9:77302936 [GRCh38]
Chr9:79917852 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2038-7C>T single nucleotide variant not provided [RCV001448645] Chr9:77250090 [GRCh38]
Chr9:79865006 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8775C>T (p.Thr2925=) single nucleotide variant VPS13A-related disorder [RCV003908666]|not provided [RCV001448689] Chr9:77370446 [GRCh38]
Chr9:79985362 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3114A>G (p.Lys1038=) single nucleotide variant not provided [RCV001407157] Chr9:77282270 [GRCh38]
Chr9:79897186 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5532A>T (p.Thr1844=) single nucleotide variant not provided [RCV001446393] Chr9:77321285 [GRCh38]
Chr9:79936201 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8586A>T (p.Gly2862=) single nucleotide variant not provided [RCV001446394] Chr9:77369331 [GRCh38]
Chr9:79984247 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6459A>G (p.Leu2153=) single nucleotide variant not provided [RCV001412108] Chr9:77339596 [GRCh38]
Chr9:79954512 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3648A>C (p.Pro1216=) single nucleotide variant not provided [RCV001448922] Chr9:77295682 [GRCh38]
Chr9:79910598 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6621A>C (p.Thr2207=) single nucleotide variant not provided [RCV001428850] Chr9:77339758 [GRCh38]
Chr9:79954674 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2965-9G>T single nucleotide variant not provided [RCV001430176] Chr9:77282112 [GRCh38]
Chr9:79897028 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8954-5T>C single nucleotide variant not provided [RCV001412046] Chr9:77371021 [GRCh38]
Chr9:79985937 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9276-10del deletion not provided [RCV001446421] Chr9:77405854 [GRCh38]
Chr9:80020770 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3339+10C>A single nucleotide variant not provided [RCV001430716] Chr9:77283660 [GRCh38]
Chr9:79898576 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6741T>C (p.Ser2247=) single nucleotide variant not provided [RCV001418701] Chr9:77339878 [GRCh38]
Chr9:79954794 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.141C>T (p.Ala47=) single nucleotide variant not provided [RCV001441211] Chr9:77199985 [GRCh38]
Chr9:79814901 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4630+9T>C single nucleotide variant not provided [RCV001436641] Chr9:77315479 [GRCh38]
Chr9:79930395 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4926C>T (p.Ile1642=) single nucleotide variant not provided [RCV001434185] Chr9:77317668 [GRCh38]
Chr9:79932584 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2259C>T (p.Ala753=) single nucleotide variant not provided [RCV001407522] Chr9:77252323 [GRCh38]
Chr9:79867239 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9483C>G (p.Leu3161=) single nucleotide variant not provided [RCV001444188] Chr9:77415964 [GRCh38]
Chr9:80030880 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1749C>T (p.Ile583=) single nucleotide variant not provided [RCV001400351] Chr9:77238155 [GRCh38]
Chr9:79853071 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6606C>T (p.Tyr2202=) single nucleotide variant not provided [RCV001405324] Chr9:77339743 [GRCh38]
Chr9:79954659 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3468T>C (p.Ile1156=) single nucleotide variant not provided [RCV001446981] Chr9:77293469 [GRCh38]
Chr9:79908385 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2637T>C (p.Thr879=) single nucleotide variant not provided [RCV001441587] Chr9:77275622 [GRCh38]
Chr9:79890538 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3236-4T>A single nucleotide variant not provided [RCV001446922] Chr9:77283543 [GRCh38]
Chr9:79898459 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6399T>C (p.Phe2133=) single nucleotide variant not provided [RCV001449514] Chr9:77339536 [GRCh38]
Chr9:79954452 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1595+8T>A single nucleotide variant not provided [RCV001444537] Chr9:77228272 [GRCh38]
Chr9:79843188 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5991+9T>C single nucleotide variant not provided [RCV001444573] Chr9:77323236 [GRCh38]
Chr9:79938152 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5313+7A>G single nucleotide variant not provided [RCV001447074] Chr9:77318598 [GRCh38]
Chr9:79933514 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8105+9C>G single nucleotide variant not provided [RCV001398110] Chr9:77359411 [GRCh38]
Chr9:79974327 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9189+10G>A single nucleotide variant not provided [RCV001399626] Chr9:77382097 [GRCh38]
Chr9:79997013 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.906T>A (p.Leu302=) single nucleotide variant not provided [RCV001436187] Chr9:77220300 [GRCh38]
Chr9:79835216 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8529A>G (p.Glu2843=) single nucleotide variant not provided [RCV001428087] Chr9:77368112 [GRCh38]
Chr9:79983028 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4413-4C>T single nucleotide variant not provided [RCV001407820] Chr9:77315249 [GRCh38]
Chr9:79930165 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8190T>C (p.Ala2730=) single nucleotide variant not provided [RCV001449549] Chr9:77360620 [GRCh38]
Chr9:79975536 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.819T>C (p.Ser273=) single nucleotide variant not provided [RCV001431205] Chr9:77220018 [GRCh38]
Chr9:79834934 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7314C>T (p.Ser2438=) single nucleotide variant not provided [RCV001408063] Chr9:77351341 [GRCh38]
Chr9:79966257 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1230G>A (p.Lys410=) single nucleotide variant not provided [RCV001434326] Chr9:77226471 [GRCh38]
Chr9:79841387 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5037G>A (p.Thr1679=) single nucleotide variant not provided [RCV001444781] Chr9:77318315 [GRCh38]
Chr9:79933231 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8036-8C>T single nucleotide variant not provided [RCV001437811] Chr9:77359325 [GRCh38]
Chr9:79974241 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3961-10T>G single nucleotide variant not provided [RCV001428099] Chr9:77307935 [GRCh38]
Chr9:79922851 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4680T>C (p.Asn1560=) single nucleotide variant not provided [RCV001403851] Chr9:77316223 [GRCh38]
Chr9:79931139 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1158G>A (p.Leu386=) single nucleotide variant not provided [RCV001444760] Chr9:77221353 [GRCh38]
Chr9:79836269 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4635T>C (p.Pro1545=) single nucleotide variant not provided [RCV001418763] Chr9:77316178 [GRCh38]
Chr9:79931094 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3039C>A (p.Ile1013=) single nucleotide variant not provided [RCV001437498] Chr9:77282195 [GRCh38]
Chr9:79897111 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.468C>T (p.Ser156=) single nucleotide variant not provided [RCV001439769] Chr9:77209505 [GRCh38]
Chr9:79824421 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.846G>A (p.Glu282=) single nucleotide variant Chorea-acanthocytosis [RCV001836406]|not provided [RCV001440299] Chr9:77220045 [GRCh38]
Chr9:79834961 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1350A>G (p.Gln450=) single nucleotide variant not provided [RCV001410752] Chr9:77226591 [GRCh38]
Chr9:79841507 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=) single nucleotide variant Chorea-acanthocytosis [RCV001831452]|not provided [RCV001410757] Chr9:77357736 [GRCh38]
Chr9:79972652 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5313+7A>T single nucleotide variant not provided [RCV001426764] Chr9:77318598 [GRCh38]
Chr9:79933514 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.84T>A (p.Ser28=) single nucleotide variant not provided [RCV001445123] Chr9:77177788 [GRCh38]
Chr9:79792704 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=) single nucleotide variant Chorea-acanthocytosis [RCV001832573]|not provided [RCV001445235] Chr9:77250219 [GRCh38]
Chr9:79865135 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4630+178dup duplication not provided [RCV001534114] Chr9:77315642..77315643 [GRCh38]
Chr9:79930558..79930559 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3864A>G (p.Pro1288=) single nucleotide variant not provided [RCV001442426] Chr9:77302966 [GRCh38]
Chr9:79917882 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5859G>A (p.Lys1953=) single nucleotide variant not provided [RCV001431574] Chr9:77323095 [GRCh38]
Chr9:79938011 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2964+7G>A single nucleotide variant not provided [RCV001408451] Chr9:77281933 [GRCh38]
Chr9:79896849 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5992-8T>C single nucleotide variant not provided [RCV001442865] Chr9:77332002 [GRCh38]
Chr9:79946918 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2905-127TA[8] microsatellite not provided [RCV001534877] Chr9:77281740..77281741 [GRCh38]
Chr9:79896656..79896657 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2512+10A>T single nucleotide variant not provided [RCV001416313] Chr9:77273374 [GRCh38]
Chr9:79888290 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5575-9T>C single nucleotide variant not provided [RCV001427223] Chr9:77321482 [GRCh38]
Chr9:79936398 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6789A>G (p.Val2263=) single nucleotide variant not provided [RCV001402642] Chr9:77340192 [GRCh38]
Chr9:79955108 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6879+7_6879+8insTTT insertion not provided [RCV001402646] Chr9:77340287..77340288 [GRCh38]
Chr9:79955203..79955204 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7779G>A (p.Lys2593=) single nucleotide variant not provided [RCV001408613] Chr9:77356840 [GRCh38]
Chr9:79971756 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7341T>C (p.Tyr2447=) single nucleotide variant not provided [RCV001411064] Chr9:77351368 [GRCh38]
Chr9:79966284 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7332C>T (p.Ala2444=) single nucleotide variant not provided [RCV001398551] Chr9:77351359 [GRCh38]
Chr9:79966275 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9090T>C (p.Thr3030=) single nucleotide variant not provided [RCV001448039] Chr9:77381988 [GRCh38]
Chr9:79996904 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1225-10T>C single nucleotide variant not provided [RCV001419615] Chr9:77226456 [GRCh38]
Chr9:79841372 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9198A>G (p.Glu3066=) single nucleotide variant not provided [RCV001445623] Chr9:77403244 [GRCh38]
Chr9:80018160 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3249G>A (p.Glu1083=) single nucleotide variant not provided [RCV001409020] Chr9:77283560 [GRCh38]
Chr9:79898476 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8668-7C>T single nucleotide variant not provided [RCV001445681] Chr9:77370250 [GRCh38]
Chr9:79985166 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1557C>T (p.Ser519=) single nucleotide variant not provided [RCV001411597] Chr9:77228226 [GRCh38]
Chr9:79843142 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.100+9GCC[5] microsatellite not provided [RCV001398760] Chr9:77177812..77177813 [GRCh38]
Chr9:79792728..79792729 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6442T>C (p.Leu2148=) single nucleotide variant not provided [RCV001418148] Chr9:77339579 [GRCh38]
Chr9:79954495 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8472-7T>C single nucleotide variant not provided [RCV001402933] Chr9:77368048 [GRCh38]
Chr9:79982964 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1296C>T (p.Ser432=) single nucleotide variant not provided [RCV001406289] Chr9:77226537 [GRCh38]
Chr9:79841453 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1452+8G>C single nucleotide variant not provided [RCV001408938] Chr9:77227493 [GRCh38]
Chr9:79842409 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4003T>C (p.Leu1335=) single nucleotide variant not provided [RCV001409215] Chr9:77307987 [GRCh38]
Chr9:79922903 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8856A>G (p.Gln2952=) single nucleotide variant not provided [RCV001436965] Chr9:77370527 [GRCh38]
Chr9:79985443 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4260T>C (p.Val1420=) single nucleotide variant not provided [RCV001429842] Chr9:77314512 [GRCh38]
Chr9:79929428 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4623G>A (p.Lys1541=) single nucleotide variant not provided [RCV001411595] Chr9:77315463 [GRCh38]
Chr9:79930379 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6879+9A>G single nucleotide variant not provided [RCV001409354] Chr9:77340291 [GRCh38]
Chr9:79955207 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1162-9A>G single nucleotide variant not provided [RCV001468286] Chr9:77225917 [GRCh38]
Chr9:79840833 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3396T>C (p.Asp1132=) single nucleotide variant not provided [RCV001472252] Chr9:77293397 [GRCh38]
Chr9:79908313 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9213A>C (p.Ala3071=) single nucleotide variant not provided [RCV001472266] Chr9:77403259 [GRCh38]
Chr9:80018175 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.243C>T (p.Ala81=) single nucleotide variant not provided [RCV001461209] Chr9:77205368 [GRCh38]
Chr9:79820284 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.24G>A (p.Val8=) single nucleotide variant not provided [RCV001532164] Chr9:77177728 [GRCh38]
Chr9:79792644 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5664T>C (p.Ile1888=) single nucleotide variant not provided [RCV001450392] Chr9:77321580 [GRCh38]
Chr9:79936496 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7027-7A>G single nucleotide variant not provided [RCV001493880] Chr9:77344146 [GRCh38]
Chr9:79959062 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.755-100A>T single nucleotide variant not provided [RCV001583740] Chr9:77219854 [GRCh38]
Chr9:79834770 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6879+10T>C single nucleotide variant not provided [RCV001454501] Chr9:77340292 [GRCh38]
Chr9:79955208 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4413-1G>A single nucleotide variant not provided [RCV001682641] Chr9:77315252 [GRCh38]
Chr9:79930168 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_033305.3(VPS13A):c.8211+9del deletion Chorea-acanthocytosis [RCV001832648]|not provided [RCV001495614] Chr9:77360649 [GRCh38]
Chr9:79975565 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.7680C>T (p.Pro2560=) single nucleotide variant not provided [RCV001461529] Chr9:77356741 [GRCh38]
Chr9:79971657 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.144+10G>C single nucleotide variant not provided [RCV001502115] Chr9:77199998 [GRCh38]
Chr9:79814914 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7156-234del deletion not provided [RCV001645421] Chr9:77344762 [GRCh38]
Chr9:79959678 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7420-17dup duplication not provided [RCV001698536] Chr9:77353377..77353378 [GRCh38]
Chr9:79968293..79968294 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=) single nucleotide variant Chorea-acanthocytosis [RCV001826286]|not provided [RCV001458234] Chr9:77415973 [GRCh38]
Chr9:80030889 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1225-9T>C single nucleotide variant not provided [RCV001495902] Chr9:77226457 [GRCh38]
Chr9:79841373 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3834A>G (p.Ala1278=) single nucleotide variant not provided [RCV001479189] Chr9:77302936 [GRCh38]
Chr9:79917852 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9190-20C>T single nucleotide variant not provided [RCV001590710] Chr9:77403216 [GRCh38]
Chr9:80018132 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.3162T>A (p.Ile1054=) single nucleotide variant not provided [RCV001450980] Chr9:77283398 [GRCh38]
Chr9:79898314 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6516G>A (p.Lys2172=) single nucleotide variant not provided [RCV001450999] Chr9:77339653 [GRCh38]
Chr9:79954569 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2640A>C (p.Thr880=) single nucleotide variant not provided [RCV001458390] Chr9:77275625 [GRCh38]
Chr9:79890541 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1224+139T>C single nucleotide variant not provided [RCV001694947] Chr9:77226127 [GRCh38]
Chr9:79841043 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.4315T>C (p.Leu1439=) single nucleotide variant not provided [RCV001499133] Chr9:77314567 [GRCh38]
Chr9:79929483 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3507+210T>C single nucleotide variant not provided [RCV001588322] Chr9:77293718 [GRCh38]
Chr9:79908634 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9475-43G>T single nucleotide variant not provided [RCV001698905] Chr9:77415913 [GRCh38]
Chr9:80030829 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1884C>T (p.Arg628=) single nucleotide variant not provided [RCV001465611] Chr9:77238370 [GRCh38]
Chr9:79853286 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4110A>G (p.Ser1370=) single nucleotide variant not provided [RCV001496382] Chr9:77308094 [GRCh38]
Chr9:79923010 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9022A>C (p.Arg3008=) single nucleotide variant not provided [RCV001486435] Chr9:77371094 [GRCh38]
Chr9:79986010 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9275+37G>C single nucleotide variant not provided [RCV001592010] Chr9:77403358 [GRCh38]
Chr9:80018274 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.385+251TA[9] microsatellite not provided [RCV001655550] Chr9:77206329..77206330 [GRCh38]
Chr9:79821245..79821246 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.4536A>G (p.Glu1512=) single nucleotide variant not provided [RCV001451788] Chr9:77315376 [GRCh38]
Chr9:79930292 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4956+124G>A single nucleotide variant not provided [RCV001675067] Chr9:77317822 [GRCh38]
Chr9:79932738 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1358-7T>C single nucleotide variant not provided [RCV001506918] Chr9:77227384 [GRCh38]
Chr9:79842300 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1453-203dup duplication not provided [RCV001643418] Chr9:77227913..77227914 [GRCh38]
Chr9:79842829..79842830 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2288+20T>C single nucleotide variant Chorea-acanthocytosis [RCV002243386]|not provided [RCV001669793] Chr9:77252372 [GRCh38]
Chr9:79867288 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.5416-242T>C single nucleotide variant not provided [RCV001695850] Chr9:77320927 [GRCh38]
Chr9:79935843 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.4412+215C>A single nucleotide variant not provided [RCV001655565] Chr9:77314879 [GRCh38]
Chr9:79929795 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7263G>A (p.Lys2421=) single nucleotide variant not provided [RCV001459225] Chr9:77345116 [GRCh38]
Chr9:79960032 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7044T>C (p.Pro2348=) single nucleotide variant not provided [RCV001469672] Chr9:77344170 [GRCh38]
Chr9:79959086 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2395A>T (p.Thr799Ser) single nucleotide variant Chorea-acanthocytosis [RCV001832798]|Inborn genetic diseases [RCV002569112]|not provided [RCV001584746] Chr9:77260192 [GRCh38]
Chr9:79875108 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_033305.3(VPS13A):c.3495A>G (p.Leu1165=) single nucleotide variant not provided [RCV001503603] Chr9:77293496 [GRCh38]
Chr9:79908412 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7761T>G (p.Ser2587=) single nucleotide variant not provided [RCV001497031] Chr9:77356822 [GRCh38]
Chr9:79971738 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8520A>G (p.Leu2840=) single nucleotide variant not provided [RCV001497041] Chr9:77368103 [GRCh38]
Chr9:79983019 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.556-8dup duplication not provided [RCV001452111] Chr9:77212959..77212960 [GRCh38]
Chr9:79827875..79827876 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6379-22G>T single nucleotide variant not provided [RCV001696099] Chr9:77339494 [GRCh38]
Chr9:79954410 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3118+182C>T single nucleotide variant not provided [RCV001673567] Chr9:77282456 [GRCh38]
Chr9:79897372 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.732T>C (p.Ile244=) single nucleotide variant not provided [RCV001466365] Chr9:77214364 [GRCh38]
Chr9:79829280 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8472-4dup duplication not provided [RCV001477134] Chr9:77368045..77368046 [GRCh38]
Chr9:79982961..79982962 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7794C>T (p.Asp2598=) single nucleotide variant not provided [RCV001470076] Chr9:77356855 [GRCh38]
Chr9:79971771 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5844T>C (p.His1948=) single nucleotide variant not provided [RCV001487476] Chr9:77323080 [GRCh38]
Chr9:79937996 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5991+201T>A single nucleotide variant not provided [RCV001586833] Chr9:77323428 [GRCh38]
Chr9:79938344 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.246A>G (p.Val82=) single nucleotide variant not provided [RCV001452306] Chr9:77205371 [GRCh38]
Chr9:79820287 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9189+2545TGA[10] microsatellite VPS13A-related disorder [RCV003980648]|not provided [RCV001837539]|not specified [RCV001528534] Chr9:77384632..77384634 [GRCh38]
Chr9:79999548..79999550 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2811C>T (p.Cys937=) single nucleotide variant not provided [RCV001460040] Chr9:77276208 [GRCh38]
Chr9:79891124 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6792T>C (p.Thr2264=) single nucleotide variant not provided [RCV001463315] Chr9:77340195 [GRCh38]
Chr9:79955111 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7152C>T (p.Asn2384=) single nucleotide variant not provided [RCV001470538] Chr9:77344278 [GRCh38]
Chr9:79959194 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3119-339G>T single nucleotide variant not provided [RCV001671931] Chr9:77283016 [GRCh38]
Chr9:79897932 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3813-10C>T single nucleotide variant not provided [RCV001477011] Chr9:77302905 [GRCh38]
Chr9:79917821 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2709A>G (p.Leu903=) single nucleotide variant not provided [RCV001455908] Chr9:77276106 [GRCh38]
Chr9:79891022 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7289+83G>A single nucleotide variant not provided [RCV001608941] Chr9:77345225 [GRCh38]
Chr9:79960141 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.496-248G>T single nucleotide variant not provided [RCV001674021] Chr9:77210368 [GRCh38]
Chr9:79825284 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3663G>A (p.Pro1221=) single nucleotide variant not provided [RCV001460319] Chr9:77295697 [GRCh38]
Chr9:79910613 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9275+15_9275+18del microsatellite not provided [RCV001477221] Chr9:77403330..77403333 [GRCh38]
Chr9:80018246..80018249 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1595+282T>G single nucleotide variant not provided [RCV001680697] Chr9:77228546 [GRCh38]
Chr9:79843462 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7652+152G>A single nucleotide variant not provided [RCV001587978] Chr9:77353793 [GRCh38]
Chr9:79968709 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1161+240A>C single nucleotide variant not provided [RCV001590089] Chr9:77221596 [GRCh38]
Chr9:79836512 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7807-105T>C single nucleotide variant not provided [RCV001685651] Chr9:77357587 [GRCh38]
Chr9:79972503 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2310A>G (p.Leu770=) single nucleotide variant not provided [RCV001504462] Chr9:77260107 [GRCh38]
Chr9:79875023 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3207A>G (p.Lys1069=) single nucleotide variant not provided [RCV001471261] Chr9:77283443 [GRCh38]
Chr9:79898359 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.283+115A>G single nucleotide variant not provided [RCV001714060] Chr9:77205523 [GRCh38]
Chr9:79820439 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.696+199_696+200del deletion not provided [RCV001672153] Chr9:77213498..77213499 [GRCh38]
Chr9:79828414..79828415 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.8607A>G (p.Pro2869=) single nucleotide variant not provided [RCV001497745] Chr9:77369352 [GRCh38]
Chr9:79984268 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.519G>C (p.Leu173=) single nucleotide variant not provided [RCV001497762] Chr9:77210639 [GRCh38]
Chr9:79825555 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2289-7A>G single nucleotide variant not provided [RCV001463431] Chr9:77260079 [GRCh38]
Chr9:79874995 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9475-4G>A single nucleotide variant not provided [RCV001481230] Chr9:77415952 [GRCh38]
Chr9:80030868 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2037+7A>G single nucleotide variant not provided [RCV001484427] Chr9:77247402 [GRCh38]
Chr9:79862318 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1359T>C (p.Thr453=) single nucleotide variant not provided [RCV001484492] Chr9:77227392 [GRCh38]
Chr9:79842308 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4269T>G (p.Pro1423=) single nucleotide variant not provided [RCV001484504] Chr9:77314521 [GRCh38]
Chr9:79929437 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6379-7A>T single nucleotide variant Chorea-acanthocytosis [RCV001827582]|not provided [RCV001687263] Chr9:77339509 [GRCh38]
Chr9:79954425 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_033305.3(VPS13A):c.2038-6T>C single nucleotide variant not provided [RCV001477869] Chr9:77250091 [GRCh38]
Chr9:79865007 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4794T>C (p.Ala1598=) single nucleotide variant not provided [RCV001501119] Chr9:77316337 [GRCh38]
Chr9:79931253 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2739G>A (p.Leu913=) single nucleotide variant not provided [RCV001501160] Chr9:77276136 [GRCh38]
Chr9:79891052 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1287G>A (p.Gly429=) single nucleotide variant not provided [RCV001464046] Chr9:77226528 [GRCh38]
Chr9:79841444 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.386-10G>T single nucleotide variant not provided [RCV001501538] Chr9:77209413 [GRCh38]
Chr9:79824329 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8953+10G>A single nucleotide variant not provided [RCV001501539] Chr9:77370945 [GRCh38]
Chr9:79985861 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1453-36A>G single nucleotide variant not provided [RCV001590041] Chr9:77228086 [GRCh38]
Chr9:79843002 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5784C>T (p.Phe1928=) single nucleotide variant not provided [RCV001453544] Chr9:77321700 [GRCh38]
Chr9:79936616 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5865T>A (p.Pro1955=) single nucleotide variant not provided [RCV001453624] Chr9:77323101 [GRCh38]
Chr9:79938017 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.100+200G>T single nucleotide variant not provided [RCV001716936] Chr9:77178004 [GRCh38]
Chr9:79792920 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.385+250_385+251insA insertion not provided [RCV001675185] Chr9:77206329..77206330 [GRCh38]
Chr9:79821245..79821246 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.2428-51C>T single nucleotide variant not provided [RCV001716382] Chr9:77273229 [GRCh38]
Chr9:79888145 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.7290-4T>G single nucleotide variant not provided [RCV001498650] Chr9:77351313 [GRCh38]
Chr9:79966229 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9190-7C>T single nucleotide variant not provided [RCV001489380] Chr9:77403229 [GRCh38]
Chr9:80018145 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2721A>G (p.Glu907=) single nucleotide variant not provided [RCV001478305] Chr9:77276118 [GRCh38]
Chr9:79891034 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4590T>C (p.Ala1530=) single nucleotide variant not provided [RCV001456732] Chr9:77315430 [GRCh38]
Chr9:79930346 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7653-24A>G single nucleotide variant not provided [RCV001590591] Chr9:77356690 [GRCh38]
Chr9:79971606 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5010A>G (p.Thr1670=) single nucleotide variant not provided [RCV001399629] Chr9:77318288 [GRCh38]
Chr9:79933204 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8982C>T (p.Phe2994=) single nucleotide variant Chorea-acanthocytosis [RCV002243246]|not provided [RCV001489950] Chr9:77371054 [GRCh38]
Chr9:79985970 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_033305.3(VPS13A):c.3603A>T (p.Ala1201=) single nucleotide variant not provided [RCV001424603] Chr9:77295637 [GRCh38]
Chr9:79910553 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2157T>A (p.Leu719=) single nucleotide variant not provided [RCV001416938] Chr9:77250216 [GRCh38]
Chr9:79865132 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7236T>C (p.Ala2412=) single nucleotide variant not provided [RCV001495538] Chr9:77345089 [GRCh38]
Chr9:79960005 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4230A>C (p.Pro1410=) single nucleotide variant not provided [RCV001477474] Chr9:77314107 [GRCh38]
Chr9:79929023 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8554-8A>G single nucleotide variant not provided [RCV001399496] Chr9:77369291 [GRCh38]
Chr9:79984207 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2142A>G (p.Thr714=) single nucleotide variant not provided [RCV001399562] Chr9:77250201 [GRCh38]
Chr9:79865117 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8514C>T (p.Ser2838=) single nucleotide variant not provided [RCV001504449] Chr9:77368097 [GRCh38]
Chr9:79983013 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.385+6_385+15del deletion Chorea-acanthocytosis [RCV001836439]|not provided [RCV001522831]|not specified [RCV003155414] Chr9:77206084..77206093 [GRCh38]
Chr9:79821000..79821009 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.3279A>T (p.Ile1093=) single nucleotide variant not provided [RCV001495179] Chr9:77283590 [GRCh38]
Chr9:79898506 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5604A>G (p.Ser1868=) single nucleotide variant not provided [RCV001499972] Chr9:77321520 [GRCh38]
Chr9:79936436 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6219T>C (p.Ser2073=) single nucleotide variant not provided [RCV001425323] Chr9:77337378 [GRCh38]
Chr9:79952294 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9400-8_9400-5dup duplication not provided [RCV001425332] Chr9:77407523..77407524 [GRCh38]
Chr9:80022439..80022440 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1453-9A>T single nucleotide variant not provided [RCV001506041] Chr9:77228113 [GRCh38]
Chr9:79843029 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1452+8G>A single nucleotide variant not provided [RCV001490456] Chr9:77227493 [GRCh38]
Chr9:79842409 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.285A>G (p.Arg95=) single nucleotide variant not provided [RCV001495542] Chr9:77205979 [GRCh38]
Chr9:79820895 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9315C>A (p.Leu3105=) single nucleotide variant not provided [RCV001403368] Chr9:77405903 [GRCh38]
Chr9:80020819 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5517C>T (p.Asp1839=) single nucleotide variant not provided [RCV001460281] Chr9:77321270 [GRCh38]
Chr9:79936186 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4425G>C (p.Leu1475=) single nucleotide variant not provided [RCV001460306] Chr9:77315265 [GRCh38]
Chr9:79930181 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6039C>G (p.Thr2013=) single nucleotide variant not provided [RCV001481531] Chr9:77332057 [GRCh38]
Chr9:79946973 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=) single nucleotide variant Chorea-acanthocytosis [RCV001832592]|not provided [RCV001457489] Chr9:77321637 [GRCh38]
Chr9:79936553 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1392T>C (p.Ala464=) single nucleotide variant not provided [RCV001465602] Chr9:77227425 [GRCh38]
Chr9:79842341 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8954-7T>A single nucleotide variant not provided [RCV001468608] Chr9:77371019 [GRCh38]
Chr9:79985935 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5928T>G (p.Ser1976=) single nucleotide variant not provided [RCV001506508] Chr9:77323164 [GRCh38]
Chr9:79938080 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3960+7T>G single nucleotide variant not provided [RCV001506511] Chr9:77303069 [GRCh38]
Chr9:79917985 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1152G>T (p.Val384=) single nucleotide variant not provided [RCV001439743] Chr9:77221347 [GRCh38]
Chr9:79836263 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1638A>C (p.Pro546=) single nucleotide variant not provided [RCV001442548] Chr9:77238044 [GRCh38]
Chr9:79852960 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4806T>C (p.Asp1602=) single nucleotide variant not provided [RCV001495990] Chr9:77316349 [GRCh38]
Chr9:79931265 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8472-8T>G single nucleotide variant not provided [RCV001453202] Chr9:77368047 [GRCh38]
Chr9:79982963 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.6420A>G (p.Ser2140=) single nucleotide variant not provided [RCV001469120] Chr9:77339557 [GRCh38]
Chr9:79954473 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1542A>G (p.Val514=) single nucleotide variant not provided [RCV001486423] Chr9:77228211 [GRCh38]
Chr9:79843127 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3189C>T (p.Ile1063=) single nucleotide variant not provided [RCV001487991] Chr9:77283425 [GRCh38]
Chr9:79898341 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7246T>C (p.Leu2416=) single nucleotide variant not provided [RCV001458370] Chr9:77345099 [GRCh38]
Chr9:79960015 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3508-9A>G single nucleotide variant not provided [RCV001497331] Chr9:77295533 [GRCh38]
Chr9:79910449 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9153C>T (p.Tyr3051=) single nucleotide variant not provided [RCV001475916] Chr9:77382051 [GRCh38]
Chr9:79996967 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2253T>G (p.Ser751=) single nucleotide variant VPS13A-related disorder [RCV003940871]|not provided [RCV001500294] Chr9:77252317 [GRCh38]
Chr9:79867233 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3118+11dup duplication not provided [RCV001523239] Chr9:77282279..77282280 [GRCh38]
Chr9:79897195..79897196 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.1212G>A (p.Thr404=) single nucleotide variant Chorea-acanthocytosis [RCV001836427]|not provided [RCV001510525] Chr9:77225976 [GRCh38]
Chr9:79840892 [GRCh37]
Chr9:9q21.2		 benign
NM_033305.3(VPS13A):c.279T>C (p.Ser93=) single nucleotide variant not provided [RCV001453533] Chr9:77205404 [GRCh38]
Chr9:79820320 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8184A>G (p.Thr2728=) single nucleotide variant not provided [RCV001481731] Chr9:77360614 [GRCh38]
Chr9:79975530 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8352C>T (p.Ser2784=) single nucleotide variant not provided [RCV001476404] Chr9:77366753 [GRCh38]
Chr9:79981669 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2349A>G (p.Gln783=) single nucleotide variant not provided [RCV001498980] Chr9:77260146 [GRCh38]
Chr9:79875062 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3708A>C (p.Leu1236=) single nucleotide variant not provided [RCV001478887] Chr9:77295742 [GRCh38]
Chr9:79910658 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5175C>T (p.Asn1725=) single nucleotide variant not provided [RCV001476206] Chr9:77318453 [GRCh38]
Chr9:79933369 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.9078-4C>G single nucleotide variant not provided [RCV001502061] Chr9:77381972 [GRCh38]
Chr9:79996888 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7027-9A>G single nucleotide variant not provided [RCV001425432] Chr9:77344144 [GRCh38]
Chr9:79959060 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.2850G>A (p.Leu950=) single nucleotide variant not provided [RCV001479022] Chr9:77280184 [GRCh38]
Chr9:79895100 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3318T>C (p.Asp1106=) single nucleotide variant not provided [RCV001404025] Chr9:77283629 [GRCh38]
Chr9:79898545 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.5532A>G (p.Thr1844=) single nucleotide variant not provided [RCV001498595] Chr9:77321285 [GRCh38]
Chr9:79936201 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.8325+9A>C single nucleotide variant not provided [RCV001423630] Chr9:77365582 [GRCh38]
Chr9:79980498 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4653G>A (p.Lys1551=) single nucleotide variant not provided [RCV001425509] Chr9:77316196 [GRCh38]
Chr9:79931112 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.636G>C (p.Leu212=) single nucleotide variant not provided [RCV001425546] Chr9:77213254 [GRCh38]
Chr9:79828170 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.693C>T (p.Ser231=) single nucleotide variant not provided [RCV001427595] Chr9:77213311 [GRCh38]
Chr9:79828227 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1632C>T (p.Gly544=) single nucleotide variant not provided [RCV001485102] Chr9:77238038 [GRCh38]
Chr9:79852954 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4887T>C (p.Phe1629=) single nucleotide variant not provided [RCV001505285] Chr9:77317629 [GRCh38]
Chr9:79932545 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7185G>A (p.Leu2395=) single nucleotide variant not provided [RCV001392895] Chr9:77345038 [GRCh38]
Chr9:79959954 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7551A>C (p.Ala2517=) single nucleotide variant not provided [RCV001434200] Chr9:77353540 [GRCh38]
Chr9:79968456 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.294T>C (p.Tyr98=) single nucleotide variant not provided [RCV001429899] Chr9:77205988 [GRCh38]
Chr9:79820904 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.7971T>C (p.His2657=) single nucleotide variant not provided [RCV001406850] Chr9:77358374 [GRCh38]
Chr9:79973290 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.1791A>C (p.Thr597=) single nucleotide variant not provided [RCV001480660] Chr9:77238277 [GRCh38]
Chr9:79853193 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=) single nucleotide variant Chorea-acanthocytosis [RCV001831421]|not provided [RCV001400292] Chr9:77314638 [GRCh38]
Chr9:79929554 [GRCh37]
Chr9:9q21.2		 likely benign
NM_033305.3(VPS13A):c.3960+10T>G single nucleotide variant not provided [RCV001425800]<