Total 82 pathogenic variants reported for Spinocerebellar ataxia type 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys) SNV
Germline		 Chr18:12337445 Pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 CA340419 rs_151344520

2 SubmittersRCV000005804
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu) SNV
Germline		 Chr18:12337435 Pathogenic Spinocerebellar ataxia type 28 No Assertion Criteria Provided
 CA340424 rs_151344521

1 SubmittersRCV000005806
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) SNV
Germline		 Chr18:12337411 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340426 rs_151344523

5 SubmittersRCV000005807RCV000487661
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr) SNV
Germline		 Chr18:12353028 Pathogenic Spinocerebellar ataxia type 28 No Assertion Criteria Provided
 CA340428 rs_151344512

2 SubmittersRCV000005808
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) SNV
Germline		 Chr20:1980674 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA257551 rs_267606941

7 SubmittersRCV000018094RCV001268483
NM_024411.5(PDYN):c.643C>T (p.Arg215Cys) SNV
Germline		 Chr20:1980445 Pathogenic Spinocerebellar ataxia type 23 No Assertion Criteria Provided
 CA257553 rs_267606939

1 SubmittersRCV000018095
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp) SNV
Germline		 Chr20:1980454 Pathogenic Spinocerebellar ataxia type 23 No Assertion Criteria Provided
 CA257557 rs_201486601

1 SubmittersRCV000018097
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) SNV
Germline		 Chr18:12337520 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 28
Condition: not provided
Optic atrophy 12
Spinocerebellar ataxia type 28
Spastic ataxia 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342731 rs_151344514

5 SubmittersRCV000023376RCV000992830RCV002490407
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg) SNV
Germline		 Chr18:12337519 Pathogenic Spinocerebellar ataxia type 28 No Assertion Criteria Provided
 CA342733 rs_151344515

2 SubmittersRCV000023377
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) SNV
Germline		 Chr18:12337505 Pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 CA342735 rs_151344517

3 SubmittersRCV000023378
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) SNV
Germline		 Chr18:12340220 Likely pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 CA343030 rs_151344513

2 SubmittersRCV000031941
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys) SNV
Germline		 Chr18:12337418 Pathogenic Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Single Submitter
 CA343036 rs_151344522

2 SubmittersRCV000031947RCV001207352
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) SNV
Germline		 Chr3:4706193 Pathogenic Spinocerebellar ataxia type 29
Condition: not provided
Inborn genetic diseases
Neurodevelopmental disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA261182 rs_397514535

7 SubmittersRCV000032771RCV001091682RCV000624908RCV003389037
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp) SNV
Germline		 Chr3:4667467 Pathogenic Spinocerebellar ataxia type 29 No Assertion Criteria Provided
 CA261185 rs_397514536

1 SubmittersRCV000032772
NM_001961.4(EEF2):c.1787C>A (p.Pro596His) SNV
Germline		 Chr19:3978099 Pathogenic Spinocerebellar ataxia type 26
Condition: not provided		 Criteria Provided
Single Submitter
 CA264797 rs_587777052

2 SubmittersRCV000056312RCV001288169
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) SNV
Germline		 Chr1:1535372 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 21
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA272844 rs_606231451

12 SubmittersRCV000148344RCV000322616
NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter) SNV
Germline		 Chr1:1535392 Pathogenic Spinocerebellar ataxia type 21 No Assertion Criteria Provided
 CA272845 rs_606231452

1 SubmittersRCV000148345
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met) SNV
Germline		 Chr1:1535723 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 21
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA272848 rs_606231454

5 SubmittersRCV000148347RCV003493461RCV003546479
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp) SNV
Germline		 Chr1:1535370 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 21
Neurodevelopmental disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA272849 rs_606231455

3 SubmittersRCV000148348RCV001374896RCV002514854
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) SNV
Germline		 Chr18:12340306 Likely pathogenic Spastic ataxia 5
Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA175106 rs_727502823

4 SubmittersRCV000149914RCV002265626RCV003144139
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) SNV
Germline		 Chr3:4645673 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 15/16		 Criteria Provided
Conflicting Classifications
 CA204907 rs_797044955

11 SubmittersRCV000190812RCV001552791RCV000677366RCV003152595
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) SNV
Germline		 Chr2:55647424 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 13
not specified
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
Condition: not provided
Spinocerebellar ataxia type 25
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA250389 rs_146571352

9 SubmittersRCV000191121RCV000196452RCV000845061RCV000766604RCV003152596RCV002514095
NM_033109.5(PNPT1):c.2014-3C>G SNV
Germline		 Chr2:55643216 Likely pathogenic Spinocerebellar ataxia type 25
Combined oxidative phosphorylation defect type 13		 Criteria Provided
Single Submitter
 rs_748445058

2 SubmittersRCV002265067RCV002471269
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) SNV
Germline		 Chr2:55647430 Conflicting classifications of pathogenicity Condition: not provided
Combined oxidative phosphorylation defect type 13
Neurodevelopmental disorder
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
Inborn genetic diseases
Spinocerebellar ataxia type 25
Autosomal recessive nonsyndromic hearing loss 70		 Criteria Provided
Conflicting Classifications
 CA322066 rs_143712760

10 SubmittersRCV000197606RCV000680151RCV000787360RCV001089488RCV001266860RCV003152598RCV003147399
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) SNV
Germline		 Chr2:55680879 Conflicting classifications of pathogenicity Condition: not provided
Combined oxidative phosphorylation defect type 13
Spinocerebellar ataxia type 25		 Criteria Provided
Conflicting Classifications
 CA323570 rs_151166046

5 SubmittersRCV000199028RCV001332755RCV003152597
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) SNV
Germline		 Chr18:12329645 Conflicting classifications of pathogenicity not specified
Spinocerebellar ataxia type 28
Condition: not provided
Spastic ataxia 5		 Criteria Provided
Conflicting Classifications
 CA321640 rs_117182113

8 SubmittersRCV000197194RCV000369996RCV000488282RCV001262989
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) SNV
Germline		 Chr18:12337349 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 28
Spastic ataxia 5
not specified
Spinocerebellar ataxia type 28
Spastic ataxia 5
Optic atrophy 12
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA319947 rs_139469785

7 SubmittersRCV000195592RCV001122821RCV001640293RCV001640294RCV003224221RCV002517193
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile) SNV
Germline		 Chr3:4645703 Likely pathogenic Spinocerebellar ataxia type 29 Criteria Provided
Single Submitter
 CA278997 rs_863224882

1 SubmittersRCV000198932
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) SNV
Germline		 Chr3:4814521 Pathogenic/Likely pathogenic Gillespie syndrome
Inborn genetic diseases
Condition: not provided
Anterior segment dysgenesis
Spinocerebellar ataxia type 29		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2232931 rs_752281590

7 SubmittersRCV000224995RCV000622922RCV001092121RCV001200032RCV001542744
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala) SNV
Germline		 Chr3:4815135 Likely pathogenic Spinocerebellar ataxia type 29 Criteria Provided
Single Submitter
 CA10584078 rs_869312685

1 SubmittersRCV000235044
NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro) SNV
Germline		 Chr3:4735314 Pathogenic Spinocerebellar ataxia type 29 No Assertion Criteria Provided
 CA351639406 rs_1114167316

1 SubmittersRCV000491057
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) SNV
Germline		 Chr3:4645678 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 29
Inborn genetic diseases
Spinocerebellar ataxia type 15/16
Gillespie syndrome
Spinocerebellar ataxia type 29
Gillespie syndrome
Neurodevelopmental disorder
Spinocerebellar ataxia type 15/16		 Criteria Provided
Conflicting Classifications
 CA10588363 rs_886039392

16 SubmittersRCV000254736RCV000677359RCV000623132RCV000850563RCV000995787RCV002278250RCV003335291
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) SNV
Germline		 Chr3:4683757 Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia
Condition: not provided
Spinocerebellar ataxia type 29		 Criteria Provided
Conflicting Classifications
 CA2231667 rs_199698357

5 SubmittersRCV000363994RCV000415780RCV000677357
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val) SNV
Germline		 Chr3:4675201 Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia
Spinocerebellar ataxia type 29
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2231486 rs_201519806

6 SubmittersRCV000377614RCV000677361RCV002523265RCV001598658
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) SNV
Germline		 Chr18:12358903 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28
Condition: not provided
AFG3L2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8896651 rs_149605021

5 SubmittersRCV000283135RCV000713023RCV003912361
NM_004115.4(FGF14):c.*414T>C SNV
Germline		 Chr13:101722417 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 27
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10642706 rs_557390242

2 SubmittersRCV000357338RCV003401310
NM_024411.5(PDYN):c.*1071G>A SNV
Germline		 Chr20:1979252 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10643526 rs_752953257

2 SubmittersRCV000346631RCV003437076
NM_006796.3(AFG3L2):c.114+12C>T SNV
Germline		 Chr18:12376957 Conflicting classifications of pathogenicity not specified
Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8896854 rs_758470020

3 SubmittersRCV000422479RCV000394614RCV002524452
NM_024411.5(PDYN):c.*231C>G SNV
Germline		 Chr20:1980092 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10652392 rs_565210312

2 SubmittersRCV000386330RCV002263613
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys) SNV
Germline		 Chr20:1980568 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9730284 rs_567558964

3 SubmittersRCV000338758RCV000518013RCV001865228
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) SNV
Germline		 Chr1:1535766 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 21		 Criteria Provided
Conflicting Classifications
 CA16042311 rs_1057518011

6 SubmittersRCV000413958RCV001267568RCV001542542
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys) SNV
Germline		 Chr3:4645609 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 29		 Criteria Provided
Conflicting Classifications
 CA351636431 rs_1553666546

3 SubmittersRCV000519089RCV000624199RCV000677367
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter) SNV
Germline		 Chr13:101726690 Pathogenic Spinocerebellar ataxia type 27
Spinocerebellar ataxia 27A		 No Assertion Criteria Provided
 CA388711151 rs_1555370787

2 SubmittersRCV000580889RCV002472357
NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly) SNV
Germline		 Chr3:4665285 Pathogenic Spinocerebellar ataxia type 29 Criteria Provided
Single Submitter
 rs_1322796318

1 SubmittersRCV000677356
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser) SNV
Germline		 Chr3:4779607 Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia
Condition: not provided
Spinocerebellar ataxia type 29		 Criteria Provided
Conflicting Classifications
 rs_373973399

5 SubmittersRCV001148042RCV000997972RCV000677358
NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro) SNV
Germline		 Chr3:4811344 Pathogenic Spinocerebellar ataxia type 29 Criteria Provided
Single Submitter
 rs_1553756062

1 SubmittersRCV000677360
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) SNV
Germline		 Chr3:4814509 Conflicting classifications of pathogenicity Inborn genetic diseases
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 15/16
Gillespie syndrome
Condition: not provided
Spinocerebellar ataxia type 29		 Criteria Provided
Conflicting Classifications
 CA351649065 rs_1553757628

6 SubmittersRCV000622722RCV000764511RCV000992210RCV001542743
NM_001114748.2(TMEM240):c.343G>A (p.Val115Met) SNV
Germline		 Chr1:1535619 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 21
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA16796850 rs_1045410944

2 SubmittersRCV000626226RCV002529783
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr) SNV
Germline		 Chr3:4815144 Pathogenic/Likely pathogenic ITPR1-associated cerebellar ataxia spectrum disorder
Condition: not provided
Spinocerebellar ataxia type 29		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553758021

5 SubmittersRCV000677398RCV001771923RCV001644763
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) SNV
Germline		 Chr3:4697198 Likely pathogenic Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 29
Gillespie syndrome
Spinocerebellar ataxia type 15/16		 Criteria Provided
Single Submitter
 rs_1559718601

2 SubmittersRCV002268270RCV002311994
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg) SNV
Germline		 Chr3:4645673 Pathogenic/Likely pathogenic Condition: not provided
Spinocerebellar ataxia type 29		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_797044955

2 SubmittersRCV000712030RCV002249433
NM_001961.4(EEF2):c.2241G>A (p.Val747=) SNV
Germline		 Chr19:3977437 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 26		 Criteria Provided
Conflicting Classifications
 rs_772173797

3 SubmittersRCV000711580RCV001809777
NM_024411.5(PDYN):c.691C>A (p.Arg231=) SNV
Germline		 Chr20:1980397 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 23		 Criteria Provided
Conflicting Classifications
 rs_201204862

3 SubmittersRCV000712516RCV001141783
NM_006796.3(AFG3L2):c.1164+1G>A SNV
Unknown		 Chr18:12356693 Pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 rs_1598832526

1 SubmittersRCV000791162
NM_024411.5(PDYN):c.582C>T (p.Asp194=) SNV
Germline		 Chr20:1980506 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 23
not specified		 Criteria Provided
Conflicting Classifications
 rs_769461186

3 SubmittersRCV000902527RCV001141785RCV001289119
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) SNV
Germline		 Chr18:12337402 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 28		 Criteria Provided
Conflicting Classifications
 rs_1598820805

4 SubmittersRCV000992832RCV001809882
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) SNV
Germline		 Chr18:12337451 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1598820860

3 SubmittersRCV000995691RCV001091986
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) SNV
Germline		 Chr18:12356739 Likely pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 rs_1598832568

1 SubmittersRCV000995692
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp) SNV
Germline		 Chr18:12359961 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_768999765

2 SubmittersRCV001128629RCV003117775
NM_024411.5(PDYN):c.*760G>C SNV
Germline		 Chr20:1979563 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_767631485

2 SubmittersRCV001141670RCV003438674
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) SNV
Germline		 Chr3:4663162 Likely pathogenic Condition: not provided
Spinocerebellar ataxia type 29		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2093873520

2 SubmittersRCV001169871RCV003447578
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile) SNV
Unknown		 Chr3:4766601 Likely pathogenic Spinocerebellar ataxia type 29 No Assertion Criteria Provided
 rs_1002376493

1 SubmittersRCV001251788
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser) SNV
Germline		 Chr18:12337454 Likely pathogenic Condition: not provided
Spinocerebellar ataxia type 28		 Criteria Provided
Single Submitter
 rs_797045221

2 SubmittersRCV001268617RCV001773581
NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln) SNV
Unknown		 Chr1:1535462 Likely pathogenic Spinocerebellar ataxia type 21 Criteria Provided
Single Submitter
 rs_2100695149

1 SubmittersRCV001647208
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys) SNV
Germline		 Chr3:4645595 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 29 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2125159664

2 SubmittersRCV001647136
NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu) SNV
Germline		 Chr3:4676677 Likely pathogenic Spinocerebellar ataxia type 29 Criteria Provided
Single Submitter
 rs_1443276640

1 SubmittersRCV001647137
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile) SNV
Germline		 Chr3:4645628 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 29 Criteria Provided
Conflicting Classifications
 rs_2125159718

2 SubmittersRCV001358678
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro) SNV
Germline		 Chr3:4815149 Likely pathogenic Spinocerebellar ataxia type 29 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2106494596

2 SubmittersRCV001358673
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro) SNV
Germline		 Chr3:4706200 Likely pathogenic Spinocerebellar ataxia type 29 Criteria Provided
Single Submitter
 rs_2125272771

1 SubmittersRCV001591749
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys) SNV
Germline		 Chr3:4663186 Likely pathogenic Spinocerebellar ataxia type 29 Criteria Provided
Single Submitter
 rs_2125193560

1 SubmittersRCV001706847
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val) SNV
Germline		 Chr18:12340320 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 28		 No Assertion Criteria Provided
 rs_756912142

3 SubmittersRCV001723389RCV001849198
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr) SNV
Germline		 Chr18:12337454 Likely pathogenic Spinocerebellar ataxia type 28 Criteria Provided
Single Submitter
 rs_797045221

2 SubmittersRCV001787700
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) SNV
Germline		 Chr3:4521037 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 29
Inborn genetic diseases
Gillespie syndrome		 Criteria Provided
Conflicting Classifications
 rs_2124927471

5 SubmittersRCV002051254RCV002471172RCV002545403RCV003987914
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) SNV
Germline		 Chr18:12351354 Pathogenic Condition: not provided
Optic atrophy 12
Spastic ataxia 5
Spinocerebellar ataxia type 28		 Criteria Provided
Single Submitter
 rs_2143165387

2 SubmittersRCV002222799RCV002508979
NM_033109.5(PNPT1):c.2069+3A>G SNV
Germline		 Chr2:55643155 Pathogenic Spinocerebellar ataxia type 25 No Assertion Criteria Provided
 rs_2104026165

1 SubmittersRCV002265066
NM_001961.4(EEF2):c.2314G>A (p.Glu772Lys) SNV
Germline		 Chr19:3977284 Likely pathogenic Spinocerebellar ataxia type 26 No Assertion Criteria Provided
 rs_2145355764

1 SubmittersRCV002267210
NM_004115.4(FGF14):c.408+1G>A SNV
Germline		 Chr13:101868724 Likely pathogenic Spinocerebellar ataxia type 27
FGF14-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002308564RCV003408225
NM_033109.5(PNPT1):c.162-2A>C SNV
Germline		 Chr2:55687707 Likely pathogenic Spinocerebellar ataxia type 25 Criteria Provided
Single Submitter

1 SubmittersRCV004515752