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	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 28 Condition: not provided	Criteria Provided Conflicting Classifications	CA340426	rs_151344523	6 SubmittersRCV000005807 RCV000487661
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 SubmittersRCV000018094 RCV001268483
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	Likely pathogenic	Spinocerebellar ataxia type 23	Criteria Provided Single Submitter	CA257557	rs_201486601	2 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 SubmittersRCV000023376 RCV000992830 RCV002490407
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)	SNV Germline	Chr18:12337519	Pathogenic	Spinocerebellar ataxia type 28 Condition: not provided	Criteria Provided Single Submitter	CA342733	rs_151344515	3 SubmittersRCV000023377 RCV006436394
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343030	rs_151344513	3 SubmittersRCV000031941 RCV004719667
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)	SNV Germline	Chr18:12337519	Pathogenic	Spinocerebellar ataxia type 28 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343032	rs_151344515	3 SubmittersRCV000031943 RCV004998125
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)	SNV Germline	Chr18:12337504	Likely pathogenic	Spinocerebellar ataxia type 28	No Assertion Criteria Provided	CA343034	rs_151344518	2 SubmittersRCV000031946
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 SubmittersRCV000031947 RCV001207352
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)	SNV Germline	Chr3:4706193	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 29 Inborn genetic diseases Condition: not provided Neurodevelopmental disorder Spinocerebellar ataxia type 15/16 Gillespie syndrome	Criteria Provided Conflicting Classifications	CA261182	rs_397514535	13 SubmittersRCV000032771 RCV000624908 RCV001091682 RCV003389037 RCV004767027 RCV005888868
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 SubmittersRCV000056312 RCV001288169
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	14 SubmittersRCV000148344 RCV000322616
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 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA272848	rs_606231454	5 SubmittersRCV000148347 RCV003546479 RCV003493461
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 SubmittersRCV000148348 RCV001374896 RCV002514854
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 SubmittersRCV000149914 RCV002265626 RCV003144139
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	SNV Germline	Chr3:4645673	Pathogenic	Inborn genetic diseases Spinocerebellar ataxia type 29 Condition: not provided Spinocerebellar ataxia type 15/16	Criteria Provided Multiple Submitters No Conflicts	CA204907	rs_797044955	12 SubmittersRCV000190812 RCV000677366 RCV001552791 RCV003152595
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 Condition: not provided Combined oxidative phosphorylation defect type 13 Autosomal recessive nonsyndromic hearing loss 70 Inborn genetic diseases Spinocerebellar ataxia type 25 PNPT1-related disorder	Criteria Provided Conflicting Classifications	CA250389	rs_146571352	10 SubmittersRCV000191121 RCV000196452 RCV000766604 RCV000845061 RCV002514095 RCV003152596 RCV004725040
NM_033109.5(PNPT1):c.2014-3C>G	SNV Germline	Chr2:55643216	Likely pathogenic	Spinocerebellar ataxia type 25	Criteria Provided Single Submitter	CA324815	rs_748445058	2 SubmittersRCV002265067
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	SNV Germline	Chr2:55647430	Pathogenic/Likely pathogenic	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 PNPT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA322066	rs_143712760	12 SubmittersRCV000197606 RCV000680151 RCV000787360 RCV001089488 RCV001266860 RCV003152598 RCV003147399 RCV006456827
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 not specified	Criteria Provided Conflicting Classifications	CA323570	rs_151166046	6 SubmittersRCV000199028 RCV001332755 RCV003152597 RCV004689669
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 AFG3L2-related disorder	Criteria Provided Conflicting Classifications	CA321640	rs_117182113	10 SubmittersRCV000197194 RCV000369996 RCV000488282 RCV001262989 RCV004755808
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 Inborn genetic diseases Spinocerebellar ataxia type 28 Spastic ataxia 5 Optic atrophy 12	Criteria Provided Conflicting Classifications	CA319947	rs_139469785	10 SubmittersRCV000195592 RCV001122821 RCV001640293 RCV002517193 RCV003224221
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 Anterior segment dysgenesis Spinocerebellar ataxia type 29 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2232931	rs_752281590	8 SubmittersRCV000224995 RCV000622922 RCV001200032 RCV001542744 RCV001092121
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	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 15/16 Gillespie syndrome Gillespie syndrome Neurodevelopmental disorder Spinocerebellar ataxia type 15/16	Criteria Provided Multiple Submitters No Conflicts	CA10588363	rs_886039392	19 SubmittersRCV000254736 RCV000623132 RCV000677359 RCV000850563 RCV000995787 RCV002278250 RCV003335291
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 SubmittersRCV000363994 RCV000415780 RCV000677357
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 Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 29 Gillespie syndrome Clear cell carcinoma of kidney Malignant tumor of urinary bladder Familial cancer of breast Gastric cancer Thymoma Melanoma Acute myeloid leukemia Uterine corpus endometrial carcinoma Lung cancer	Criteria Provided Conflicting Classifications	CA2231486	rs_201519806	9 SubmittersRCV000377614 RCV000677361 RCV001598658 RCV002523265 RCV005398472 RCV005897693 RCV005897692 RCV005897690 RCV005897694 RCV005897695 RCV005897696 RCV005897691 RCV005897698 RCV005897697
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	6 SubmittersRCV000283135 RCV000713023 RCV003912361
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 SubmittersRCV000357338 RCV003401310
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 SubmittersRCV000346631 RCV003437076
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys)	SNV Germline	Chr18:12337481	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 28 not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8896320	rs_551015841	5 SubmittersRCV000330348 RCV000517688 RCV003168484 RCV005055884
NM_006796.3(AFG3L2):c.114+12C>T	SNV Germline	Chr18:12376957	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 28 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA8896854	rs_758470020	3 SubmittersRCV000394614 RCV000422479 RCV002524452
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 SubmittersRCV000386330 RCV002263613
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 SubmittersRCV000338758 RCV000518013 RCV001865228
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	8 SubmittersRCV000413958 RCV001267568 RCV001542542
NM_001378452.1(ITPR1):c.107G>A (p.Arg36His)	SNV Germline	Chr3:4521038	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 29	Criteria Provided Conflicting Classifications	CA16042451	rs_1057518026	5 SubmittersRCV000414716 RCV000624443 RCV004786680
NM_024411.5(PDYN):c.716G>A (p.Arg239Gln)	SNV Germline	Chr20:1980372	Conflicting classifications of pathogenicity	not specified Condition: not provided Spinocerebellar ataxia type 23 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9730215	rs_185551108	4 SubmittersRCV000516280 RCV000905914 RCV005398737 RCV005702220
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 Gillespie syndrome Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 15/16	Criteria Provided Conflicting Classifications	CA351636431	rs_1553666546	5 SubmittersRCV000519089 RCV000624199 RCV000677367 RCV005027620
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 SubmittersRCV000580889 RCV002472357
NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly)	SNV Germline	Chr3:4665285	Pathogenic	Spinocerebellar ataxia type 29	Criteria Provided Single Submitter	CA351642398	rs_1322796318	1 SubmittersRCV000677356
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser)	SNV Germline	Chr3:4779607	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 29 Condition: not provided Autosomal dominant cerebellar ataxia ITPR1-related disorder	Criteria Provided Conflicting Classifications	CA2232562	rs_373973399	6 SubmittersRCV000677358 RCV000997972 RCV001148042 RCV004752963
NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro)	SNV Germline	Chr3:4811344	Pathogenic	Spinocerebellar ataxia type 29	Criteria Provided Single Submitter	CA351647630	rs_1553756062	1 SubmittersRCV000677360
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)	SNV Germline	Chr3:4814509	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Spinocerebellar ataxia type 15/16 Gillespie syndrome Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 29	Criteria Provided Conflicting Classifications	CA351649065	rs_1553757628	6 SubmittersRCV000622722 RCV000992210 RCV000764511 RCV001542743
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 SubmittersRCV000626226 RCV002529783
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	SNV Germline	Chr18:12351347	Conflicting classifications of pathogenicity	Condition: not provided Optic atrophy Optic atrophy 12 Spastic ataxia 5 Spinocerebellar ataxia type 28	Criteria Provided Conflicting Classifications	CA296701043	rs_912546325	5 SubmittersRCV000658802 RCV001249473 RCV001253811 RCV001253812 RCV005409707
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)	SNV Germline	Chr3:4815144	Pathogenic/Likely pathogenic	ITPR1-associated cerebellar ataxia spectrum disorder Spinocerebellar ataxia type 29 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351649720	rs_1553758021	6 SubmittersRCV000677398 RCV001644763 RCV001771923
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)	SNV Germline	Chr3:4697198	Likely pathogenic	Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 29 Gillespie syndrome ITPR1-related disorders Spinocerebellar ataxia type 29	Criteria Provided Multiple Submitters No Conflicts	CA351632360	rs_1559718601	3 SubmittersRCV002311994 RCV005250102 RCV002268270
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	CA351636831	rs_797044955	2 SubmittersRCV000712030 RCV002249433
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	CA9088631	rs_772173797	3 SubmittersRCV000711580 RCV001809777
NM_024411.5(PDYN):c.691C>A (p.Arg231=)	SNV Germline	Chr20:1980397	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 23 not specified	Criteria Provided Conflicting Classifications	CA9730227	rs_201204862	4 SubmittersRCV000712516 RCV001141783 RCV004997236
NM_006796.3(AFG3L2):c.1164+1G>A	SNV Unknown	Chr18:12356693	Pathogenic	Spinocerebellar ataxia type 28	Criteria Provided Single Submitter	CA401953058	rs_1598832526	1 SubmittersRCV000791162
NM_024411.5(PDYN):c.582C>T (p.Asp194=)	SNV Germline	Chr20:1980506	Conflicting classifications of pathogenicity	Condition: not provided not specified Spinocerebellar ataxia type 23	Criteria Provided Conflicting Classifications	CA9730265	rs_769461186	3 SubmittersRCV000902527 RCV001289119 RCV001141785
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	CA401943821	rs_1598820805	4 SubmittersRCV000992832 RCV001809882
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	CA401944050	rs_1598820860	3 SubmittersRCV000995691 RCV001091986
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)	SNV Germline	Chr18:12356739	Likely pathogenic	Spinocerebellar ataxia type 28	Criteria Provided Single Submitter	CA401953160	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	CA8896680	rs_768999765	2 SubmittersRCV001128629 RCV003117775
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	CA310824758	rs_767631485	2 SubmittersRCV001141670 RCV003438674
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	CA351641450	rs_2093873520	2 SubmittersRCV001169871 RCV003447578
NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly)	SNV Germline	Chr3:4663183	Likely pathogenic	Intellectual disability Spinocerebellar ataxia type 29	Criteria Provided Multiple Submitters No Conflicts	CA351641499	rs_2093873717	2 SubmittersRCV001260628 RCV005410930
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	CA401944060	rs_797045221	2 SubmittersRCV001268617 RCV001773581
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)	SNV Germline	Chr2:55636376	Conflicting classifications of pathogenicity	Combined oxidative phosphorylation defect type 13 Condition: not provided Autosomal recessive nonsyndromic hearing loss 70 PNPT1-related disorder Autosomal recessive nonsyndromic hearing loss 70 Spinocerebellar ataxia type 25 Combined oxidative phosphorylation defect type 13	Criteria Provided Conflicting Classifications	CA1667741	rs_574670461	6 SubmittersRCV001290310 RCV001871733 RCV003448389 RCV004545186 RCV005394903
NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln)	SNV Unknown	Chr1:1535462	Likely pathogenic	Spinocerebellar ataxia type 21	Criteria Provided Single Submitter	CA337866057	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	CA351636391	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	CA351649371	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	CA351636567	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	CA351649741	rs_2106494596	2 SubmittersRCV001358673
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile)	SNV Germline	Chr18:12360045	Conflicting classifications of pathogenicity	Inborn genetic diseases Spinocerebellar ataxia type 28 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA8896687	rs_201966169	7 SubmittersRCV004039362 RCV001810096 RCV004587182 RCV001570064
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro)	SNV Germline	Chr3:4706200	Likely pathogenic	Spinocerebellar ataxia type 29	Criteria Provided Single Submitter	CA351634840	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	CA351641506	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	CA401947254	rs_756912142	3 SubmittersRCV001723389 RCV001849198
NM_024411.5(PDYN):c.635G>A (p.Arg212Gln)	SNV Germline	Chr20:1980453	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 23 not specified	Criteria Provided Conflicting Classifications	CA9730247	rs_138498390	3 SubmittersRCV002261376 RCV001849208 RCV004998957
NM_001378452.1(ITPR1):c.7474G>A (p.Gly2492Ser)	SNV Germline	Chr3:4813147	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 15/16 Gillespie syndrome	Criteria Provided Conflicting Classifications	CA2232856	rs_187571979	4 SubmittersRCV001779687 RCV004040796 RCV005023252
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)	SNV Germline	Chr18:12337454	Likely pathogenic	Spinocerebellar ataxia type 28	Criteria Provided Single Submitter	CA401944063	rs_797045221	2 SubmittersRCV001787700
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp)	SNV Germline	Chr2:55693784	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Combined oxidative phosphorylation defect type 13 Autosomal recessive nonsyndromic hearing loss 70 Spinocerebellar ataxia type 25	Criteria Provided Conflicting Classifications	CA1668648	rs_199712282	5 SubmittersRCV001840873 RCV004041051 RCV005397036
NM_001378452.1(ITPR1):c.5006C>A (p.Thr1669Lys)	SNV Germline	Chr3:4711771	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 29	Criteria Provided Conflicting Classifications	CA351636481	rs_2125283014	2 SubmittersRCV001968812 RCV005410943
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	CA351794379	rs_2124927471	6 SubmittersRCV002051254 RCV002471172 RCV002545403 RCV003987914
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)	SNV Germline	Chr18:12351354	Pathogenic	Condition: not provided Spinocerebellar ataxia type 28 Optic atrophy 12 Spastic ataxia 5	Criteria Provided Single Submitter	CA401952411	rs_2143165387	2 SubmittersRCV002222799 RCV002508979
NM_033109.5(PNPT1):c.2069+3A>G	SNV Germline	Chr2:55643155	Pathogenic	Spinocerebellar ataxia type 25	No Assertion Criteria Provided	CA2580067470	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	CA403389370	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	CA388712523	rs_2501856727	2 SubmittersRCV002308564 RCV003408225
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)	SNV Unknown	Chr3:4667476	Conflicting classifications of pathogenicity	ITPR1-related syndromic and non-syndromic hereditary ataxias Spinocerebellar ataxia type 29	Criteria Provided Conflicting Classifications	CA351643071	rs_1064796252	3 SubmittersRCV002466761 RCV002465091
NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu)	SNV Germline	Chr18:12329647	Conflicting classifications of pathogenicity	Condition: not provided Optic atrophy 12 Spinocerebellar ataxia type 28 Spastic ataxia 5	Criteria Provided Conflicting Classifications	CA296683802	rs_969327635	2 SubmittersRCV003078520 RCV005028213
NM_001114748.2(TMEM240):c.217G>A (p.Ala73Thr)	SNV Germline	Chr1:1535745	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 21 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA526693	rs_779413548	2 SubmittersRCV003141034 RCV004963568
NM_001378452.1(ITPR1):c.1700A>G (p.Tyr567Cys)	SNV Germline	Chr3:4665283	Pathogenic	Condition: not provided Spinocerebellar ataxia type 29	Criteria Provided Multiple Submitters No Conflicts	CA351642390	rs_1131691919	2 SubmittersRCV003328923 RCV005255512
NM_033109.5(PNPT1):c.162-2A>C	SNV Germline	Chr2:55687707	Likely pathogenic	Spinocerebellar ataxia type 25	Criteria Provided Single Submitter	CA346943308	rs_2529627773	1 SubmittersRCV004515752
NM_006796.3(AFG3L2):c.1651C>T (p.Arg551Ter)	SNV Germline	Chr18:12348285	Pathogenic	Spinocerebellar ataxia type 28	Criteria Provided Single Submitter		rs_149121681	1 SubmittersRCV004587708
NM_001378452.1(ITPR1):c.823G>A (p.Ala275Thr)	SNV Germline	Chr3:4645696	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 29 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV004788461 RCV004798082
NM_006796.3(AFG3L2):c.1168C>T (p.Arg390Ter)	SNV Germline	Chr18:12353155	Pathogenic	Spinocerebellar ataxia type 28	Criteria Provided Single Submitter			1 SubmittersRCV004789981
NM_001378452.1(ITPR1):c.7301C>T (p.Thr2434Ile)	SNV Germline	Chr3:4811293	Likely pathogenic	Spinocerebellar ataxia type 29 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004790082 RCV004987234
NM_001378452.1(ITPR1):c.824C>T (p.Ala275Val)	SNV Germline	Chr3:4645697	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 29	Criteria Provided Conflicting Classifications			2 SubmittersRCV005252551
NM_033109.5(PNPT1):c.2143C>T (p.Arg715Ter)	SNV Germline	Chr2:55640632	Likely pathogenic	Spinocerebellar ataxia type 25	Criteria Provided Single Submitter			1 SubmittersRCV005253359
NM_006796.3(AFG3L2):c.2105G>T (p.Arg702Leu)	SNV Germline	Chr18:12337411	Likely pathogenic	Spinocerebellar ataxia type 28	Criteria Provided Single Submitter			1 SubmittersRCV005253433

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

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 28
Condition: not provided

Criteria Provided
Conflicting Classifications

CA340426

rs_151344523

6 SubmittersRCV000005807 RCV000487661

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 SubmittersRCV000018094 RCV001268483

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

Likely pathogenic

Spinocerebellar ataxia type 23

Criteria Provided
Single Submitter

CA257557

rs_201486601

2 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 SubmittersRCV000023376 RCV000992830 RCV002490407

NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)

SNV
Germline

Chr18:12337519

Pathogenic

Spinocerebellar ataxia type 28
Condition: not provided

Criteria Provided
Single Submitter

CA342733

rs_151344515

3 SubmittersRCV000023377 RCV006436394

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343030

rs_151344513

3 SubmittersRCV000031941 RCV004719667

NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)

SNV
Germline

Chr18:12337519

Pathogenic

Spinocerebellar ataxia type 28
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343032

rs_151344515

3 SubmittersRCV000031943 RCV004998125

NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)

SNV
Germline

Chr18:12337504

Likely pathogenic

Spinocerebellar ataxia type 28

No Assertion Criteria Provided

CA343034

rs_151344518

2 SubmittersRCV000031946

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 SubmittersRCV000031947 RCV001207352

NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)

SNV
Germline

Chr3:4706193

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 29
Inborn genetic diseases
Condition: not provided
Neurodevelopmental disorder
Spinocerebellar ataxia type 15/16
Gillespie syndrome

Criteria Provided
Conflicting Classifications

CA261182

rs_397514535

13 SubmittersRCV000032771 RCV000624908 RCV001091682 RCV003389037 RCV004767027 RCV005888868

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 SubmittersRCV000056312 RCV001288169

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

14 SubmittersRCV000148344 RCV000322616

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA272848

rs_606231454

5 SubmittersRCV000148347 RCV003546479 RCV003493461

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 SubmittersRCV000148348 RCV001374896 RCV002514854

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 SubmittersRCV000149914 RCV002265626 RCV003144139

NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)

SNV
Germline

Chr3:4645673

Pathogenic

Inborn genetic diseases
Spinocerebellar ataxia type 29
Condition: not provided
Spinocerebellar ataxia type 15/16

Criteria Provided
Multiple Submitters
No Conflicts

CA204907

rs_797044955

12 SubmittersRCV000190812 RCV000677366 RCV001552791 RCV003152595

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
Condition: not provided
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
Inborn genetic diseases
Spinocerebellar ataxia type 25
PNPT1-related disorder

Criteria Provided
Conflicting Classifications

CA250389

rs_146571352

10 SubmittersRCV000191121 RCV000196452 RCV000766604 RCV000845061 RCV002514095 RCV003152596 RCV004725040

NM_033109.5(PNPT1):c.2014-3C>G

SNV
Germline

Chr2:55643216

Likely pathogenic

Spinocerebellar ataxia type 25

Criteria Provided
Single Submitter

CA324815

rs_748445058

2 SubmittersRCV002265067

NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)

SNV
Germline

Chr2:55647430

Pathogenic/Likely pathogenic

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
PNPT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA322066

rs_143712760

12 SubmittersRCV000197606 RCV000680151 RCV000787360 RCV001089488 RCV001266860 RCV003152598 RCV003147399 RCV006456827

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
not specified

Criteria Provided
Conflicting Classifications

CA323570

rs_151166046

6 SubmittersRCV000199028 RCV001332755 RCV003152597 RCV004689669

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
AFG3L2-related disorder

Criteria Provided
Conflicting Classifications

CA321640

rs_117182113

10 SubmittersRCV000197194 RCV000369996 RCV000488282 RCV001262989 RCV004755808

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
Inborn genetic diseases
Spinocerebellar ataxia type 28
Spastic ataxia 5
Optic atrophy 12

Criteria Provided
Conflicting Classifications

CA319947

rs_139469785

10 SubmittersRCV000195592 RCV001122821 RCV001640293 RCV002517193 RCV003224221

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
Anterior segment dysgenesis
Spinocerebellar ataxia type 29
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2232931

rs_752281590

8 SubmittersRCV000224995 RCV000622922 RCV001200032 RCV001542744 RCV001092121

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

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 15/16
Gillespie syndrome
Gillespie syndrome
Neurodevelopmental disorder
Spinocerebellar ataxia type 15/16

Criteria Provided
Multiple Submitters
No Conflicts

CA10588363

rs_886039392

19 SubmittersRCV000254736 RCV000623132 RCV000677359 RCV000850563 RCV000995787 RCV002278250 RCV003335291

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 SubmittersRCV000363994 RCV000415780 RCV000677357

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
Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 29
Gillespie syndrome
Clear cell carcinoma of kidney
Malignant tumor of urinary bladder
Familial cancer of breast
Gastric cancer
Thymoma
Melanoma
Acute myeloid leukemia
Uterine corpus endometrial carcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA2231486

rs_201519806

9 SubmittersRCV000377614 RCV000677361 RCV001598658 RCV002523265 RCV005398472 RCV005897693 RCV005897692 RCV005897690 RCV005897694 RCV005897695 RCV005897696 RCV005897691 RCV005897698 RCV005897697

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

6 SubmittersRCV000283135 RCV000713023 RCV003912361

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 SubmittersRCV000357338 RCV003401310

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 SubmittersRCV000346631 RCV003437076

NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys)

SNV
Germline

Chr18:12337481

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 28
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8896320

rs_551015841

5 SubmittersRCV000330348 RCV000517688 RCV003168484 RCV005055884

NM_006796.3(AFG3L2):c.114+12C>T

SNV
Germline

Chr18:12376957

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 28
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8896854

rs_758470020

3 SubmittersRCV000394614 RCV000422479 RCV002524452

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 SubmittersRCV000386330 RCV002263613

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 SubmittersRCV000338758 RCV000518013 RCV001865228

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

8 SubmittersRCV000413958 RCV001267568 RCV001542542

NM_001378452.1(ITPR1):c.107G>A (p.Arg36His)

SNV
Germline

Chr3:4521038

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 29

Criteria Provided
Conflicting Classifications

CA16042451

rs_1057518026

5 SubmittersRCV000414716 RCV000624443 RCV004786680

NM_024411.5(PDYN):c.716G>A (p.Arg239Gln)

SNV
Germline

Chr20:1980372

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spinocerebellar ataxia type 23
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9730215

rs_185551108

4 SubmittersRCV000516280 RCV000905914 RCV005398737 RCV005702220

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
Gillespie syndrome
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 15/16

Criteria Provided
Conflicting Classifications

CA351636431

rs_1553666546

5 SubmittersRCV000519089 RCV000624199 RCV000677367 RCV005027620

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 SubmittersRCV000580889 RCV002472357

NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly)

SNV
Germline

Chr3:4665285

Pathogenic

Spinocerebellar ataxia type 29

Criteria Provided
Single Submitter

CA351642398

rs_1322796318

1 SubmittersRCV000677356

NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser)

SNV
Germline

Chr3:4779607

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 29
Condition: not provided
Autosomal dominant cerebellar ataxia
ITPR1-related disorder

Criteria Provided
Conflicting Classifications

CA2232562

rs_373973399

6 SubmittersRCV000677358 RCV000997972 RCV001148042 RCV004752963

NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro)

SNV
Germline

Chr3:4811344

Pathogenic

Spinocerebellar ataxia type 29

Criteria Provided
Single Submitter

CA351647630

rs_1553756062

1 SubmittersRCV000677360

NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)

SNV
Germline

Chr3:4814509

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Spinocerebellar ataxia type 15/16
Gillespie syndrome
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 29

Criteria Provided
Conflicting Classifications

CA351649065

rs_1553757628

6 SubmittersRCV000622722 RCV000992210 RCV000764511 RCV001542743

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 SubmittersRCV000626226 RCV002529783

NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)

SNV
Germline

Chr18:12351347

Conflicting classifications of pathogenicity

Condition: not provided
Optic atrophy
Optic atrophy 12
Spastic ataxia 5
Spinocerebellar ataxia type 28

Criteria Provided
Conflicting Classifications

CA296701043

rs_912546325

5 SubmittersRCV000658802 RCV001249473 RCV001253811 RCV001253812 RCV005409707

NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)

SNV
Germline

Chr3:4815144

Pathogenic/Likely pathogenic

ITPR1-associated cerebellar ataxia spectrum disorder
Spinocerebellar ataxia type 29
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351649720

rs_1553758021

6 SubmittersRCV000677398 RCV001644763 RCV001771923

NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)

SNV
Germline

Chr3:4697198

Likely pathogenic

Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 29
Gillespie syndrome
ITPR1-related disorders
Spinocerebellar ataxia type 29

Criteria Provided
Multiple Submitters
No Conflicts

CA351632360

rs_1559718601

3 SubmittersRCV002311994 RCV005250102 RCV002268270

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

CA351636831

rs_797044955

2 SubmittersRCV000712030 RCV002249433

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

CA9088631

rs_772173797

3 SubmittersRCV000711580 RCV001809777

NM_024411.5(PDYN):c.691C>A (p.Arg231=)

SNV
Germline

Chr20:1980397

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 23
not specified

Criteria Provided
Conflicting Classifications

CA9730227

rs_201204862

4 SubmittersRCV000712516 RCV001141783 RCV004997236

NM_006796.3(AFG3L2):c.1164+1G>A

SNV
Unknown

Chr18:12356693

Pathogenic

Spinocerebellar ataxia type 28

Criteria Provided
Single Submitter

CA401953058

rs_1598832526

1 SubmittersRCV000791162

NM_024411.5(PDYN):c.582C>T (p.Asp194=)

SNV
Germline

Chr20:1980506

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Spinocerebellar ataxia type 23

Criteria Provided
Conflicting Classifications

CA9730265

rs_769461186

3 SubmittersRCV000902527 RCV001289119 RCV001141785

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

CA401943821

rs_1598820805

4 SubmittersRCV000992832 RCV001809882

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

CA401944050

rs_1598820860

3 SubmittersRCV000995691 RCV001091986

NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)

SNV
Germline

Chr18:12356739

Likely pathogenic

Spinocerebellar ataxia type 28

Criteria Provided
Single Submitter

CA401953160

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

CA8896680

rs_768999765

2 SubmittersRCV001128629 RCV003117775

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

CA310824758

rs_767631485

2 SubmittersRCV001141670 RCV003438674

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

CA351641450

rs_2093873520

2 SubmittersRCV001169871 RCV003447578

NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly)

SNV
Germline

Chr3:4663183

Likely pathogenic

Intellectual disability
Spinocerebellar ataxia type 29

Criteria Provided
Multiple Submitters
No Conflicts

CA351641499

rs_2093873717

2 SubmittersRCV001260628 RCV005410930

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

CA401944060

rs_797045221

2 SubmittersRCV001268617 RCV001773581

NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)

SNV
Germline

Chr2:55636376

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 13
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 70
PNPT1-related disorder
Autosomal recessive nonsyndromic hearing loss 70
Spinocerebellar ataxia type 25
Combined oxidative phosphorylation defect type 13

Criteria Provided
Conflicting Classifications

CA1667741

rs_574670461

6 SubmittersRCV001290310 RCV001871733 RCV003448389 RCV004545186 RCV005394903

NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln)

SNV
Unknown

Chr1:1535462

Likely pathogenic

Spinocerebellar ataxia type 21

Criteria Provided
Single Submitter

CA337866057

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

CA351636391

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

CA351649371

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

CA351636567

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

CA351649741

rs_2106494596

2 SubmittersRCV001358673

NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile)

SNV
Germline

Chr18:12360045

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia type 28
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8896687

rs_201966169

7 SubmittersRCV004039362 RCV001810096 RCV004587182 RCV001570064

NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro)

SNV
Germline

Chr3:4706200

Likely pathogenic

Spinocerebellar ataxia type 29

Criteria Provided
Single Submitter

CA351634840

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

CA351641506

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

CA401947254

rs_756912142

3 SubmittersRCV001723389 RCV001849198

NM_024411.5(PDYN):c.635G>A (p.Arg212Gln)

SNV
Germline

Chr20:1980453

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 23
not specified

Criteria Provided
Conflicting Classifications

CA9730247

rs_138498390

3 SubmittersRCV002261376 RCV001849208 RCV004998957

NM_001378452.1(ITPR1):c.7474G>A (p.Gly2492Ser)

SNV
Germline

Chr3:4813147

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 15/16
Gillespie syndrome

Criteria Provided
Conflicting Classifications

CA2232856

rs_187571979

4 SubmittersRCV001779687 RCV004040796 RCV005023252

NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)

SNV
Germline

Chr18:12337454

Likely pathogenic

Spinocerebellar ataxia type 28

Criteria Provided
Single Submitter

CA401944063

rs_797045221

2 SubmittersRCV001787700

NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp)

SNV
Germline

Chr2:55693784

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
Spinocerebellar ataxia type 25

Criteria Provided
Conflicting Classifications

CA1668648

rs_199712282

5 SubmittersRCV001840873 RCV004041051 RCV005397036

NM_001378452.1(ITPR1):c.5006C>A (p.Thr1669Lys)

SNV
Germline

Chr3:4711771

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 29

Criteria Provided
Conflicting Classifications

CA351636481

rs_2125283014

2 SubmittersRCV001968812 RCV005410943

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

CA351794379

rs_2124927471

6 SubmittersRCV002051254 RCV002471172 RCV002545403 RCV003987914

NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)

SNV
Germline

Chr18:12351354

Pathogenic

Condition: not provided
Spinocerebellar ataxia type 28
Optic atrophy 12
Spastic ataxia 5

Criteria Provided
Single Submitter

CA401952411

rs_2143165387

2 SubmittersRCV002222799 RCV002508979

NM_033109.5(PNPT1):c.2069+3A>G

SNV
Germline

Chr2:55643155

Pathogenic

Spinocerebellar ataxia type 25

No Assertion Criteria Provided

CA2580067470

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

CA403389370

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

CA388712523

rs_2501856727

2 SubmittersRCV002308564 RCV003408225

NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)

SNV
Unknown

Chr3:4667476

Conflicting classifications of pathogenicity

ITPR1-related syndromic and non-syndromic hereditary ataxias
Spinocerebellar ataxia type 29

Criteria Provided
Conflicting Classifications

CA351643071

rs_1064796252

3 SubmittersRCV002466761 RCV002465091

NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu)

SNV
Germline

Chr18:12329647

Conflicting classifications of pathogenicity

Condition: not provided
Optic atrophy 12
Spinocerebellar ataxia type 28
Spastic ataxia 5

Criteria Provided
Conflicting Classifications

CA296683802

rs_969327635

2 SubmittersRCV003078520 RCV005028213

NM_001114748.2(TMEM240):c.217G>A (p.Ala73Thr)

SNV
Germline

Chr1:1535745

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA526693

rs_779413548

2 SubmittersRCV003141034 RCV004963568

NM_001378452.1(ITPR1):c.1700A>G (p.Tyr567Cys)

SNV
Germline

Chr3:4665283

Pathogenic

Condition: not provided
Spinocerebellar ataxia type 29

Criteria Provided
Multiple Submitters
No Conflicts

CA351642390

rs_1131691919

2 SubmittersRCV003328923 RCV005255512

NM_033109.5(PNPT1):c.162-2A>C

SNV
Germline

Chr2:55687707

Likely pathogenic

Spinocerebellar ataxia type 25

Criteria Provided
Single Submitter

CA346943308

rs_2529627773

1 SubmittersRCV004515752

NM_006796.3(AFG3L2):c.1651C>T (p.Arg551Ter)

SNV
Germline

Chr18:12348285

Pathogenic

Spinocerebellar ataxia type 28

Criteria Provided
Single Submitter

rs_149121681

1 SubmittersRCV004587708

NM_001378452.1(ITPR1):c.823G>A (p.Ala275Thr)

SNV
Germline

Chr3:4645696

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 29
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004788461 RCV004798082

NM_006796.3(AFG3L2):c.1168C>T (p.Arg390Ter)

SNV
Germline

Chr18:12353155

Pathogenic

Spinocerebellar ataxia type 28

Criteria Provided
Single Submitter

1 SubmittersRCV004789981

NM_001378452.1(ITPR1):c.7301C>T (p.Thr2434Ile)

SNV
Germline

Chr3:4811293

Likely pathogenic

Spinocerebellar ataxia type 29
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004790082 RCV004987234

NM_001378452.1(ITPR1):c.824C>T (p.Ala275Val)

SNV
Germline

Chr3:4645697

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 29

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005252551

NM_033109.5(PNPT1):c.2143C>T (p.Arg715Ter)

SNV
Germline

Chr2:55640632

Likely pathogenic

Spinocerebellar ataxia type 25

Criteria Provided
Single Submitter

1 SubmittersRCV005253359

NM_006796.3(AFG3L2):c.2105G>T (p.Arg702Leu)

SNV
Germline

Chr18:12337411

Likely pathogenic

Spinocerebellar ataxia type 28

Criteria Provided
Single Submitter

1 SubmittersRCV005253433