Total 126 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
rs_1587653832

1 SubmittersRCV000004950

NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter) SNV
Germline
Chr9:77226546 Pathogenic Chorea-acanthocytosis No Assertion Criteria Provided
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
not specified
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5091890 rs_117320408

8 SubmittersRCV000347795RCV000518783RCV001562536RCV002523807

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 Chorea-acanthocytosis
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5092718 rs_141528779

8 SubmittersRCV000399518RCV000517325RCV000862888

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

3 SubmittersRCV000285403RCV000866529

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

5 SubmittersRCV000343290RCV001416506RCV003957876

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

13 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 Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
CA5092367 rs_200280742

3 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

9 SubmittersRCV000517261RCV000605550RCV001580041

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

3 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
Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Multiple Submitters
No Conflicts
rs_774308815

3 SubmittersRCV000670922RCV003558513RCV003444632

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

6 SubmittersRCV000714172RCV001167155

NM_033305.3(VPS13A):c.7953+1G>A SNV
Germline
Chr9:77357839 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Single Submitter
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
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
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
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
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
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
not specified
VPS13A-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_146158125

6 SubmittersRCV000861596RCV001274101RCV003396496RCV003908162RCV004029300

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
rs_200387635

5 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
rs_146574121

4 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
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
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
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
rs_752134753

3 SubmittersRCV000868288RCV001167222

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

3 SubmittersRCV000865669RCV001274088RCV003169121

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
rs_370144264

4 SubmittersRCV000865041RCV001169677

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
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
not specified
VPS13A-related disorder
Criteria Provided
Conflicting Classifications
rs_148458576

6 SubmittersRCV000866132RCV001830891RCV002538966RCV003396507RCV003908219

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
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
rs_780664594

2 SubmittersRCV001003343RCV002551702

NM_033305.3(VPS13A):c.555+1G>A SNV
Germline
Chr9:77210676 Pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter
rs_1590003601

1 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
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
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
rs_199807227

3 SubmittersRCV001035586RCV001333419

NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter) SNV
Germline
Chr9:77407536 Pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Single Submitter
rs_148173878

2 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
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
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
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
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
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
rs_144290291

6 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
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
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
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
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
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
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
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
Single Submitter
rs_771943305

2 SubmittersRCV001208989RCV001828675

NM_033305.3(VPS13A):c.3961-2A>C SNV
Germline
Chr9:77307943 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Single Submitter
rs_1244139989

2 SubmittersRCV001204165RCV001828638

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

2 SubmittersRCV001204796RCV001833799

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
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
rs_1830740171

1 SubmittersRCV001329575

NM_033305.3(VPS13A):c.8668-1G>A SNV
Germline
Chr9:77370256 Likely pathogenic Condition: not provided
Chorea-acanthocytosis
Criteria Provided
Single Submitter
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
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
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
rs_998711723

2 SubmittersRCV001489950RCV002243246

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

2 SubmittersRCV001785122RCV003772144

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

1 SubmittersRCV001784015

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
rs_1459022689

2 SubmittersRCV002044102RCV002489918

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
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

1 SubmittersRCV002468947

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

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

2 SubmittersRCV003062215RCV003485808

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

1 SubmittersRCV003882767

NM_033305.3(VPS13A):c.755-1G>A SNV
Germline
Chr9:77219953 Pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV003882768

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

1 SubmittersRCV003882769

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

1 SubmittersRCV003882770

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

1 SubmittersRCV003338056

NM_033305.3(VPS13A):c.7027-1G>A SNV
Germline
Chr9:77344152 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV003486345

NM_033305.3(VPS13A):c.8744-2A>G SNV
Germline
Chr9:77370413 Likely pathogenic Chorea-acanthocytosis Criteria Provided
Single Submitter

1 SubmittersRCV003486346