Total 206 pathogenic variants reported for Chorea-acanthocytosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys) SNV
Germline
Chr9:77205394 Pathogenic Chorea-acanthocytosis No Assertion Criteria Provided
CA253246 rs_119477052

1 SubmittersRCV000004946

NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) SNV
Germline
Chr9:77213240 Pathogenic Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Single Submitter
CA253247 rs_119477053

2 SubmittersRCV000004949RCV002512780

NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr) SNV
Germline
Chr9:77358438 Pathogenic Chorea-acanthocytosis No Assertion Criteria Provided
CA373859810 rs_1587653832

1 SubmittersRCV000004950

NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter) SNV
Germline
Chr9:77226546 Pathogenic Chorea-acanthocytosis No Assertion Criteria Provided
CA373845250 rs_761923202

1 SubmittersRCV000030800

NM_033305.3(VPS13A):c.101-14T>G SNV
Germline
Chr9:77199931 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5091221 rs_202024224

2 SubmittersRCV000376684RCV002523805

NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) SNV
Germline
Chr9:77252265 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5091890 rs_117320408

9 SubmittersRCV000347795RCV001562536RCV000518783RCV002523807

NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) SNV
Germline
Chr9:77283593 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5092210 rs_372019796

3 SubmittersRCV000266201RCV000864063

NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) SNV
Germline
Chr9:77295740 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
VPS13A-related disorder
Criteria Provided
Conflicting Classifications
CA5092317 rs_189138644

4 SubmittersRCV000268760RCV000862936RCV003950307

NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=) SNV
Germline
Chr9:77360570 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5093552 rs_368161466

2 SubmittersRCV000318802RCV000877125

NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) SNV
Germline
Chr9:77219974 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
VPS13A-related disorder
Criteria Provided
Conflicting Classifications
CA5091481 rs_41307461

12 SubmittersRCV000287997RCV000518625RCV003912582

NM_033305.3(VPS13A):c.927A>G (p.Ala309=) SNV
Germline
Chr9:77220321 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5091533 rs_749004984

3 SubmittersRCV000345068RCV001447590

NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) SNV
Germline
Chr9:77318570 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
not specified
Criteria Provided
Conflicting Classifications
CA5092718 rs_141528779

8 SubmittersRCV000862888RCV000399518RCV000517325

NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) SNV
Germline
Chr9:77321641 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5092841 rs_139817600

3 SubmittersRCV000340749RCV000869576

NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) SNV
Germline
Chr9:77321702 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5092850 rs_748876393

5 SubmittersRCV000306726RCV000866730RCV002523812

NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=) SNV
Germline
Chr9:77339728 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10630465 rs_1057515657

2 SubmittersRCV000281748RCV002523815

NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) SNV
Germline
Chr9:77344170 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5093201 rs_143259810

4 SubmittersRCV000285403RCV000866529

NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) SNV
Germline
Chr9:77344204 Conflicting classifications of pathogenicity Chorea-acanthocytosis
VPS13A-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5093209 rs_370401336

5 SubmittersRCV000343290RCV003957876RCV001416506

NM_033305.3(VPS13A):c.159A>G (p.Val53=) SNV
Germline
Chr9:77201379 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10634000 rs_1057515645

2 SubmittersRCV000284403RCV002058809

NM_033305.3(VPS13A):c.2170+13T>C SNV
Germline
Chr9:77250242 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5091865 rs_183087425

4 SubmittersRCV000382598RCV001529454

NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) SNV
Germline
Chr9:77323120 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
not specified
VPS13A-related disorder
Criteria Provided
Conflicting Classifications
CA5092885 rs_149694033

14 SubmittersRCV000310297RCV000710282RCV001729570RCV003912583

NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=) SNV
Germline
Chr9:77360587 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5093555 rs_755095881

2 SubmittersRCV000357512RCV002058812

NM_033305.3(VPS13A):c.8212-15G>A SNV
Germline
Chr9:77365445 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5093579 rs_771085531

2 SubmittersRCV000265073RCV002058813

NM_033305.3(VPS13A):c.981C>T (p.Ala327=) SNV
Germline
Chr9:77220375 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5091538 rs_368425803

2 SubmittersRCV000398542RCV001473622

NM_033305.3(VPS13A):c.1900+9C>T SNV
Germline
Chr9:77238395 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5091798 rs_773690202

2 SubmittersRCV000379213RCV000876405

NM_033305.3(VPS13A):c.2667+11C>T SNV
Germline
Chr9:77275663 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5091999 rs_375898960

4 SubmittersRCV000402288RCV001579642

NM_033305.3(VPS13A):c.3813-6T>C SNV
Germline
Chr9:77302909 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10634381 rs_1057515654

2 SubmittersRCV000326144RCV003660798

NM_033305.3(VPS13A):c.6379-12T>G SNV
Germline
Chr9:77339504 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10634383 rs_865850464

2 SubmittersRCV000259197RCV002058811

NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) SNV
Germline
Chr9:77353446 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
not specified
VPS13A-related disorder
Criteria Provided
Conflicting Classifications
CA5093361 rs_141138349

9 SubmittersRCV000368612RCV000861046RCV001579965RCV003922655

NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=) SNV
Germline
Chr9:77370437 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5093758 rs_201517936

2 SubmittersRCV000291092RCV001865252

NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter) SNV
Germline
Chr9:77219998 Pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5091486 rs_771004767

4 SubmittersRCV000414210RCV001833500

NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter) SNV
Germline
Chr9:77302991 Pathogenic/Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5092367 rs_200280742

5 SubmittersRCV000413108RCV001833496

NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter) SNV
Germline
Chr9:77314663 Pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373855535 rs_1193250444

3 SubmittersRCV000518026RCV001829479

NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) SNV
Germline
Chr9:77316303 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
not specified
Criteria Provided
Conflicting Classifications
CA5092598 rs_149840356

10 SubmittersRCV000517261RCV000605550RCV001580041

NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg) SNV
Germline
Chr9:77365473 Conflicting classifications of pathogenicity not specified
Condition: not provided
Chorea-acanthocytosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5093583 rs_145686832

5 SubmittersRCV000517783RCV001851475RCV002481690RCV004965530

NM_033305.3(VPS13A):c.2513-2A>T SNV
Germline
Chr9:77275496 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA194373070 rs_1037030970

4 SubmittersRCV000521085RCV001835838

NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) SNV
Germline
Chr9:77318543 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5092713 rs_143021112

4 SubmittersRCV000519799RCV001167806

NM_006019.4(TCIRG1):c.713+1G>T SNV
Germline
Chr11:68043654 Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1
Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6146780 rs_774308815

3 SubmittersRCV000670922RCV003444632RCV003558513

NM_033305.3(VPS13A):c.2814A>G (p.Pro938=) SNV
Germline
Chr9:77276211 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
not specified
Criteria Provided
Conflicting Classifications
CA5092041 rs_145346590

8 SubmittersRCV000714172RCV001167155RCV004997246

NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val) SNV
Germline
Chr9:77295767 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5092321 rs_145398548

3 SubmittersRCV000714174RCV001825430RCV005512808

NM_033305.3(VPS13A):c.6094C>T (p.Arg2032Ter) SNV
Germline
Chr9:77332112 Pathogenic/Likely pathogenic Condition: not provided
VPS13A-related disorder
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5092937 rs_764376151

3 SubmittersRCV000800102RCV003392604RCV005047078

NM_033305.3(VPS13A):c.7156-2A>T SNV
Germline
Chr9:77345007 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373853165 rs_1587628060

2 SubmittersRCV000805086RCV004800596

NM_033305.3(VPS13A):c.7953+1G>A SNV
Germline
Chr9:77357839 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Single Submitter
CA5093477 rs_372141290

2 SubmittersRCV000811112RCV001830771

NM_033305.3(VPS13A):c.963G>A (p.Val321=) SNV
Germline
Chr9:77220357 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5091535 rs_184828562

3 SubmittersRCV000862179RCV001165491

NM_033305.3(VPS13A):c.971A>G (p.His324Arg) SNV
Germline
Chr9:77220365 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5091537 rs_138568018

4 SubmittersRCV000862847RCV001165492RCV002536239

NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) SNV
Germline
Chr9:77228197 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5091710 rs_147954757

6 SubmittersRCV000862130RCV001167092

NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) SNV
Germline
Chr9:77281884 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5092095 rs_373768055

4 SubmittersRCV000861665RCV001167159

NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) SNV
Germline
Chr9:77318325 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5092678 rs_371138709

3 SubmittersRCV000860774RCV001276372

NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile) SNV
Germline
Chr9:77339678 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
VPS13A-related disorder
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA5093063 rs_146158125

6 SubmittersRCV000861596RCV001274101RCV003908162RCV004029300RCV003396496

NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) SNV
Germline
Chr9:77357805 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
VPS13A-related disorder
Criteria Provided
Conflicting Classifications
CA5093471 rs_200387635

6 SubmittersRCV000861958RCV001165767RCV003955579

NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys) SNV
Germline
Chr9:77403320 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5093983 rs_146574121

5 SubmittersRCV000861959RCV001274607RCV002538906

NM_033305.3(VPS13A):c.496-9C>T SNV
Germline
Chr9:77210607 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5091364 rs_370541609

3 SubmittersRCV000862443RCV001169513

NM_033305.3(VPS13A):c.9077+8C>G SNV
Germline
Chr9:77371157 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA588651535 rs_1325690140

2 SubmittersRCV000862739RCV001169813

NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=) SNV
Germline
Chr9:77295838 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5092335 rs_527418139

3 SubmittersRCV000865014RCV001274081

NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) SNV
Germline
Chr9:77315442 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5092559 rs_752134753

3 SubmittersRCV000868288RCV001167222

NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser) SNV
Germline
Chr9:77318505 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5092705 rs_182495915

5 SubmittersRCV000865669RCV003169121RCV001274088

NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=) SNV
Germline
Chr9:77321285 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5092804 rs_370144264

4 SubmittersRCV000865041RCV001169677

NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) SNV
Germline
Chr9:77321510 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
VPS13A-related disorder
Criteria Provided
Conflicting Classifications
CA5092818 rs_143449578

6 SubmittersRCV000867464RCV001169678RCV003928395

NM_033305.3(VPS13A):c.6840T>C (p.His2280=) SNV
Germline
Chr9:77340243 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
VPS13A-related disorder
Criteria Provided
Conflicting Classifications
CA5093133 rs_750072063

3 SubmittersRCV000868327RCV001167877RCV003918402

NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) SNV
Germline
Chr9:77382017 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Inborn genetic diseases
VPS13A-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA5093876 rs_148458576

6 SubmittersRCV000866132RCV001830891RCV002538966RCV003908219RCV003396507

NM_033305.3(VPS13A):c.2964+5G>A SNV
Germline
Chr9:77281931 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5092103 rs_139516538

4 SubmittersRCV000868692RCV001167160

NM_033305.3(VPS13A):c.1929A>G (p.Lys643=) SNV
Germline
Chr9:77247287 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5091818 rs_749655544

2 SubmittersRCV000979393RCV001167673

NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter) SNV
Germline
Chr9:77206031 Pathogenic Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA5091317 rs_780664594

2 SubmittersRCV001003343RCV002551702

NM_033305.3(VPS13A):c.555+1G>A SNV
Germline
Chr9:77210676 Pathogenic/Likely pathogenic Chorea-acanthocytosis Criteria Provided
Multiple Submitters
No Conflicts
CA373842505 rs_1590003601

2 SubmittersRCV001009622

NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter) SNV
Germline
Chr9:77317660 Pathogenic Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA373858442 rs_1829478568

2 SubmittersRCV001030432RCV002552041

NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter) SNV
Germline
Chr9:77281915 Pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373846243 rs_1827048548

2 SubmittersRCV001063011RCV003339452

NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) SNV
Germline
Chr9:77382007 Pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5093874 rs_199807227

5 SubmittersRCV001035586RCV001333419

NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter) SNV
Germline
Chr9:77407536 Pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5094055 rs_148173878

3 SubmittersRCV001066244RCV001827425

NM_033305.3(VPS13A):c.1155T>C (p.Ser385=) SNV
Germline
Chr9:77221350 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5091593 rs_774931205

2 SubmittersRCV001167091RCV001406980

NM_033305.3(VPS13A):c.2454A>G (p.Thr818=) SNV
Germline
Chr9:77273306 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5091959 rs_777234852

2 SubmittersRCV001165555RCV001421067

NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met) SNV
Germline
Chr9:77273327 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA373843633 rs_1826457641

2 SubmittersRCV001165556RCV004032879

NM_033305.3(VPS13A):c.2841A>G (p.Pro947=) SNV
Germline
Chr9:77280175 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA465538125 rs_1826936558

2 SubmittersRCV001167156RCV001489509

NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=) SNV
Germline
Chr9:77293421 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA465538552 rs_1274810899

2 SubmittersRCV001169605RCV002067838

NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys) SNV
Germline
Chr9:77321224 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5092798 rs_144290291

7 SubmittersRCV001167807RCV001559039RCV004032899

NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=) SNV
Germline
Chr9:77321234 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA465621772 rs_1829726014

2 SubmittersRCV001167808RCV002067823

NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=) SNV
Germline
Chr9:77340502 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA194386121 rs_192942248

2 SubmittersRCV001167878RCV001410163

NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg) SNV
Germline
Chr9:77357738 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5093463 rs_558287069

2 SubmittersRCV001165766RCV002558614

NM_033305.3(VPS13A):c.9234T>C (p.His3078=) SNV
Germline
Chr9:77403280 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5093974 rs_766370355

2 SubmittersRCV001169816RCV001397306

NM_033305.3(VPS13A):c.755-7T>C SNV
Germline
Chr9:77219947 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5091477 rs_377234046

2 SubmittersRCV001165489RCV001410067

NM_033305.3(VPS13A):c.1785+7A>G SNV
Germline
Chr9:77238198 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
VPS13A-related disorder
Criteria Provided
Conflicting Classifications
CA5091773 rs_367906505

3 SubmittersRCV001167672RCV001396112RCV003908419

NM_033305.3(VPS13A):c.8472-11G>T SNV
Germline
Chr9:77368044 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA588482295 rs_1281741862

2 SubmittersRCV001167951RCV003737017

NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter) SNV
Germline
Chr9:77252255 Pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5091887 rs_771943305

3 SubmittersRCV001208989RCV001828675

NM_033305.3(VPS13A):c.3961-2A>C SNV
Germline
Chr9:77307943 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373853141 rs_1244139989

4 SubmittersRCV001204165RCV001828638

NM_033305.3(VPS13A):c.5574+1G>A SNV
Germline
Chr9:77321328 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Single Submitter
CA373862939 rs_1829731758

2 SubmittersRCV001204796RCV001833799

NM_033305.3(VPS13A):c.3817C>T (p.Arg1273Ter) SNV
Germline
Chr9:77302919 Pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5092353 rs_756096368

2 SubmittersRCV001242927RCV005050308

NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile) SNV
Germline
Chr9:77345126 Conflicting classifications of pathogenicity Chorea-acanthocytosis
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5093275 rs_189718498

3 SubmittersRCV001277456RCV003236887RCV005286376

NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter) SNV
Germline
Chr9:77260123 Pathogenic Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA373852274 rs_1417246536

2 SubmittersRCV001329572RCV002546336

NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter) SNV
Unknown
Chr9:77340221 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter
CA373851694 rs_1830740171

1 SubmittersRCV001329575

NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu) SNV
Germline
Chr9:77318524 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5092707 rs_781398633

5 SubmittersRCV001357634RCV002476639RCV004968113

NM_033305.3(VPS13A):c.8668-1G>A SNV
Germline
Chr9:77370256 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Single Submitter
CA373866929 rs_2131587158

2 SubmittersRCV001377486RCV001831343

NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter) SNV
Germline
Chr9:77283468 Pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373847002 rs_1827161118

2 SubmittersRCV001383258RCV002283545

NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) SNV
Germline
Chr9:77366776 Pathogenic/Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373863771 rs_756865623

2 SubmittersRCV001381121RCV002493921

NM_033305.3(VPS13A):c.8982C>T (p.Phe2994=) SNV
Germline
Chr9:77371054 Conflicting classifications of pathogenicity Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA194407343 rs_998711723

2 SubmittersRCV001489950RCV002243246

NM_033305.3(VPS13A):c.7419+1G>A SNV
Germline
Chr9:77351447 Pathogenic/Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5093315 rs_763654348

2 SubmittersRCV003772144RCV001785122

NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter) SNV
Germline
Chr9:77177718 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter
CA373989402 rs_2131030007

1 SubmittersRCV001784015

NM_033305.3(VPS13A):c.2512+2T>C SNV
Germline
Chr9:77273366 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373843755 rs_2131325491

2 SubmittersRCV002038741RCV005042704

NM_033305.3(VPS13A):c.8324A>T (p.Lys2775Met) SNV
Germline
Chr9:77365572 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Chorea-acanthocytosis
Criteria Provided
Conflicting Classifications
CA5093598 rs_760798467

3 SubmittersRCV002044043RCV002543503RCV004720323

NM_033305.3(VPS13A):c.8325+1G>A SNV
Germline
Chr9:77365574 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373862896 rs_1459022689

2 SubmittersRCV002044102RCV002489918

NM_033305.3(VPS13A):c.7653-2A>G SNV
Germline
Chr9:77356712 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5093397 rs_779075858

3 SubmittersRCV001976313RCV005050496

NM_033305.3(VPS13A):c.386-2A>G SNV
Germline
Chr9:77209421 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373842101 rs_2131140222

2 SubmittersRCV002020249RCV005042674

NM_033305.3(VPS13A):c.7072C>T (p.Gln2358Ter) SNV
Germline
Chr9:77344198 Pathogenic/Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373852950 rs_981025037

2 SubmittersRCV002041960RCV005040418

NM_033305.3(VPS13A):c.188-2A>G SNV
Germline
Chr9:77205311 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373841625 rs_1312425146

2 SubmittersRCV002020902RCV005050524

NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) SNV
Germline
Chr9:77357752 Pathogenic/Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA194394983 rs_1055609567

4 SubmittersRCV001949636RCV002507706

NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg) SNV
Unknown
Chr9:77403309 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter
CA373853971 rs_2538311239

1 SubmittersRCV002468947

NM_033305.3(VPS13A):c.1A>T (p.Met1Leu) SNV
Germline
Chr9:77177705 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter
CA373989369 rs_2131029946

1 SubmittersRCV002272671

NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter) SNV
Germline
Chr9:77345067 Pathogenic Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA194389693 rs_919186738

2 SubmittersRCV002289268RCV003101667

NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter) SNV
Germline
Chr9:77238022 Pathogenic/Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5091747 rs_758612012

3 SubmittersRCV003062215RCV003485808

NM_033305.3(VPS13A):c.9276-2A>T SNV
Germline
Chr9:77405862 Pathogenic/Likely pathogenic Chorea-acanthocytosis
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA373854004 rs_2538317743

2 SubmittersRCV005239612RCV003062217

NM_033305.3(VPS13A):c.6700C>T (p.Arg2234Ter) SNV
Germline
Chr9:77339837 Pathogenic Condition: not provided
Chorea-acanthocytosis
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA5093090 rs_748922513

3 SubmittersRCV002619773RCV005045333RCV005301260

NM_033305.3(VPS13A):c.144+1G>C SNV
Germline
Chr9:77199989 Pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter
CA373841320 rs_2537517002

1 SubmittersRCV003882767

NM_033305.3(VPS13A):c.755-1G>A SNV
Germline
Chr9:77219953 Pathogenic/Likely pathogenic Chorea-acanthocytosis Criteria Provided
Multiple Submitters
No Conflicts
CA373843011 rs_2537595478

2 SubmittersRCV003882768

NM_033305.3(VPS13A):c.2512+1G>A SNV
Germline
Chr9:77273365 Pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter
CA373843752 rs_2537804052

1 SubmittersRCV003882769

NM_033305.3(VPS13A):c.2951T>A (p.Leu984Ter) SNV
Germline
Chr9:77281913 Pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter
CA373846238 rs_2537840830

1 SubmittersRCV003882770

NM_033305.3(VPS13A):c.6379-1G>C SNV
Germline
Chr9:77339515 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter
CA373849780 rs_2538074780

1 SubmittersRCV003338056

NM_033305.3(VPS13A):c.7027-1G>A SNV
Germline
Chr9:77344152 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Multiple Submitters
No Conflicts
CA5093198 rs_764591495

2 SubmittersRCV003486345

NM_033305.3(VPS13A):c.8744-2A>G SNV
Germline
Chr9:77370413 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Multiple Submitters
No Conflicts
CA373867285 rs_2538203386

2 SubmittersRCV003486346

NM_033305.3(VPS13A):c.7156-1G>C SNV
Germline
Chr9:77345008 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373853170 rs_2538099164

2 SubmittersRCV003571742RCV005047706

NM_033305.3(VPS13A):c.8656G>T (p.Glu2886Ter) SNV
Germline
Chr9:77369401 Pathogenic/Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373866249 rs_2538198396

2 SubmittersRCV003680792RCV005051355

NM_033305.3(VPS13A):c.4900C>T (p.Gln1634Ter) SNV
Germline
Chr9:77317642 Pathogenic/Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373858383 rs_2537991917

2 SubmittersRCV003711661RCV005047747

NM_033305.3(VPS13A):c.5345G>A (p.Trp1782Ter) SNV
Germline
Chr9:77319603 Pathogenic/Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA373860983 rs_772171799

2 SubmittersRCV003705909RCV005047791

NM_033305.3(VPS13A):c.8041A>T (p.Lys2681Ter) SNV
Germline
Chr9:77359338 Likely pathogenic Chorea-acanthocytosis No Assertion Criteria Provided

1 SubmittersRCV004767633

NM_033305.3(VPS13A):c.2T>A (p.Met1Lys) SNV
Germline
Chr9:77177706 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048646

NM_033305.3(VPS13A):c.406C>T (p.Gln136Ter) SNV
Germline
Chr9:77209443 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048647

NM_033305.3(VPS13A):c.754+1G>C SNV
Germline
Chr9:77214387 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005049196

NM_033305.3(VPS13A):c.1585C>T (p.Gln529Ter) SNV
Germline
Chr9:77228254 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048651

NM_033305.3(VPS13A):c.2170+2T>C SNV
Germline
Chr9:77250231 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048654

NM_033305.3(VPS13A):c.2513-1G>A SNV
Germline
Chr9:77275497 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048656

NM_033305.3(VPS13A):c.3339+1G>A SNV
Germline
Chr9:77283651 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048658

NM_033305.3(VPS13A):c.4384A>T (p.Arg1462Ter) SNV
Germline
Chr9:77314636 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005049201

NM_033305.3(VPS13A):c.5108C>G (p.Ser1703Ter) SNV
Germline
Chr9:77318386 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048660

NM_033305.3(VPS13A):c.5991+1G>T SNV
Germline
Chr9:77323228 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048661

NM_033305.3(VPS13A):c.6379-1G>A SNV
Germline
Chr9:77339515 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005049204

NM_033305.3(VPS13A):c.6606C>A (p.Tyr2202Ter) SNV
Germline
Chr9:77339743 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005049205

NM_033305.3(VPS13A):c.7155+2T>C SNV
Germline
Chr9:77344283 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005049207

NM_033305.3(VPS13A):c.7698G>A (p.Trp2566Ter) SNV
Germline
Chr9:77356759 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048664

NM_033305.3(VPS13A):c.8620A>T (p.Arg2874Ter) SNV
Germline
Chr9:77369365 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048665

NM_033305.3(VPS13A):c.8667+2T>C SNV
Germline
Chr9:77369414 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048666

NM_033305.3(VPS13A):c.8743+1G>T SNV
Germline
Chr9:77370333 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048667

NM_033305.3(VPS13A):c.8823C>A (p.Tyr2941Ter) SNV
Germline
Chr9:77370494 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048669

NM_033305.3(VPS13A):c.8872G>T (p.Glu2958Ter) SNV
Germline
Chr9:77370543 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048670

NM_033305.3(VPS13A):c.9078-1G>A SNV
Germline
Chr9:77381975 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048671

NM_033305.3(VPS13A):c.9219C>A (p.Tyr3073Ter) SNV
Germline
Chr9:77403265 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048672

NM_033305.3(VPS13A):c.9275+1G>T SNV
Germline
Chr9:77403322 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005048673

NM_033305.3(VPS13A):c.4863+2T>C SNV
Unknown
Chr9:77316408 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV005255891

NM_033305.3(VPS13A):c.7951C>T (p.Gln2651Ter) SNV
Germline
Chr9:77357836 Likely pathogenic Chorea-acanthocytosis No Assertion Criteria Provided

1 SubmittersRCV005608243

NM_033305.3(VPS13A):c.9322G>T (p.Glu3108Ter) SNV
Germline
Chr9:77405910 Likely pathogenic Chorea-acanthocytosis No Assertion Criteria Provided

1 SubmittersRCV005608250

NM_033305.3(VPS13A):c.76C>T (p.Gln26Ter) SNV
Germline
Chr9:77177780 Likely pathogenic Chorea-acanthocytosis No Assertion Criteria Provided

1 SubmittersRCV005614875

NM_033305.3(VPS13A):c.8326-2A>G SNV
Germline
Chr9:77366725 Likely pathogenic Chorea-acanthocytosis No Assertion Criteria Provided

1 SubmittersRCV005614877

NM_033305.3(VPS13A):c.1225-1G>A SNV
Germline
Chr9:77226465 Likely pathogenic Chorea-acanthocytosis No Assertion Criteria Provided

1 SubmittersRCV005614884

NM_033305.3(VPS13A):c.2134C>T (p.Gln712Ter) SNV
Germline
Chr9:77250193 Pathogenic Chorea-acanthocytosis No Assertion Criteria Provided

1 SubmittersRCV005608321

NM_033305.3(VPS13A):c.2904+1G>A SNV
Germline
Chr9:77280239 Likely pathogenic Chorea-acanthocytosis No Assertion Criteria Provided

1 SubmittersRCV005608340