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Links from MedGen

Items: 62

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:4709160
GRCh38:
Chr3:4667476
ITPR1L590V, L605VITPR1-related syndromic and non-syndromic hereditary ataxias, Spinocerebellar ataxia type 29Uncertain significance
(Nov 29, 2022)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr3:4562721
GRCh38:
Chr3:4521037
ITPR1R36CInborn genetic diseases, not provided, Spinocerebellar ataxia type 29
Conflicting interpretations of pathogenicity
(May 17, 2023)		criteria provided, conflicting interpretations
3.
GRCh37:
Chr3:4735387
GRCh38:
Chr3:4693703
ITPR1I1391F, I1400F, I1406F, I1415FSpinocerebellar ataxia type 29Uncertain significance
(Apr 9, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr3:4699938
GRCh38:
Chr3:4658254
ITPR1R361P, R376PSpinocerebellar ataxia type 29Uncertain significance
(Jun 25, 2020)		criteria provided, single submitter
5.
GRCh37:
Chr3:4703756
GRCh38:
Chr3:4662072
ITPR1Spinocerebellar ataxia type 29, Gillespie syndrome, Spinocerebellar ataxia type 15/16
Uncertain significancecriteria provided, single submitter
6.
GRCh37:
Chr3:4704870
GRCh38:
Chr3:4663186
ITPR1E497K, E512KSpinocerebellar ataxia type 29Likely pathogenic
(Dec 18, 2020)		criteria provided, single submitter
7.
GRCh37:
Chr3:4693937
GRCh38:
Chr3:4652253
ITPR1Spinocerebellar ataxia type 15/16, Gillespie syndrome, Spinocerebellar ataxia type 29,
not provided		Benign
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:4747884
GRCh38:
Chr3:4706200
ITPR1L1540P, L1549P, L1555P, L1564PSpinocerebellar ataxia type 29Likely pathogenic
(Sep 9, 2020)		criteria provided, single submitter
9.
GRCh37:
Chr3:4704907
GRCh38:
Chr3:4663223
ITPR1not provided, Gillespie syndrome, Spinocerebellar ataxia type 29,
Spinocerebellar ataxia type 15/16		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr3:4817057
GRCh38:
Chr3:4775373
ITPR1Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16, Gillespie syndrome,
not provided		Benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:4725107
GRCh38:
Chr3:4683423
ITPR1G1043S, G1052S, G1058S, G1067SSpinocerebellar ataxia type 29Uncertain significance
(Jun 26, 2020)		criteria provided, single submitter
12.
GRCh37:
Chr3:4687312
GRCh38:
Chr3:4645628
ITPR1T252ISpinocerebellar ataxia type 29Likely pathogenic
(Apr 7, 2021)		criteria provided, single submitter
13.
GRCh37:
Chr3:4856833
GRCh38:
Chr3:4815149
ITPR1, LOC126806590T2537P, T2552P, T2585P, T2600PSpinocerebellar ataxia type 29Likely pathogenic
(Oct 2, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:4681107
GRCh38:
Chr3:4639423
ITPR1N107DSpinocerebellar ataxia type 29Uncertain significance
(Jul 25, 2019)		criteria provided, single submitter
15.
GRCh37:
Chr3:4702696
GRCh38:
Chr3:4661012
ITPR1H377Q, H392QSpinocerebellar ataxia type 29Uncertain significance
(Jun 9, 2020)		criteria provided, single submitter
16.
GRCh37:
Chr3:4718361
GRCh38:
Chr3:4676677
ITPR1G924E, G933E, G939E, G948ESpinocerebellar ataxia type 29Likely pathogenic
(Jul 12, 2021)		criteria provided, single submitter
17.
GRCh37:
Chr3:4687279
GRCh38:
Chr3:4645595
ITPR1R241KSpinocerebellar ataxia type 29Pathogenic/Likely pathogenic
(Mar 2, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr3:4856801
GRCh38:
Chr3:4815117
ITPR1, LOC126806590V2526A, V2541A, V2574A, V2589ASpinocerebellar ataxia type 29Uncertain significancecriteria provided, single submitter
19.
GRCh37:
Chr3:4752034
GRCh38:
Chr3:4710350
ITPR1R1599H, R1608H, R1614H, R1623HGillespie syndrome, Spinocerebellar ataxia type 29Uncertain significance
(May 26, 2020)		criteria provided, single submitter
20.
GRCh37:
Chr3:4808285
GRCh38:
Chr3:4766601
ITPR1M1809I, M1824I, M1857I, M1872ISpinocerebellar ataxia type 29Likely pathogenic
(Jan 1, 2019)		no assertion criteria provided
21.
GRCh37:
Chr3:4836757
GRCh38:
Chr3:4795073
ITPR1V2210M, V2273M, V2225M, V2258MSpinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16, Gillespie syndrome,
Autosomal dominant cerebellar ataxia, Inborn genetic diseases, not provided
Uncertain significance
(Mar 14, 2023)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:4767262
GRCh38:
Chr3:4725578
ITPR1not provided, Spinocerebellar ataxia type 15/16, Gillespie syndrome,
Spinocerebellar ataxia type 29		Benign
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:4818973
GRCh38:
Chr3:4777289
ITPR1N2006S, N2054S, N2021S, N2069SSpinocerebellar ataxia type 29Uncertain significance
(May 28, 2019)		criteria provided, single submitter
24.
GRCh37:
Chr3:4739000-4739001
GRCh38:
Chr3:4697316-4697317
ITPR1not provided, Spinocerebellar ataxia type 29Benign
(Aug 6, 2019)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:4726857
GRCh38:
Chr3:4685173
ITPR1Gillespie syndrome, Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16,
not provided		Benign/Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:4718324
GRCh38:
Chr3:4676640
ITPR1G921S, G912S, G927S, G936SSpinocerebellar ataxia type 29, not providedUncertain significance
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:4687357
GRCh38:
Chr3:4645673
ITPR1T267Rnot provided, Spinocerebellar ataxia type 29Pathogenic/Likely pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr3:4738882
GRCh38:
Chr3:4697198
ITPR1V1421M, V1430M, V1436M, V1445MSpinocerebellar ataxia type 29Likely pathogenic
(Jul 26, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr3:4856828
GRCh38:
Chr3:4815144
ITPR1, LOC126806590I2535T, I2583T, I2550T, I2598TSpinocerebellar ataxia type 29, not providedPathogenic/Likely pathogenic
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr3:4856193
GRCh38:
Chr3:4814509
ITPR1, LOC126806590G2487R, G2535R, G2502R, G2550RSpinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16, Gillespie syndrome,
Inborn genetic diseases, not provided		Conflicting interpretations of pathogenicity
(Dec 20, 2022)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr3:4706873
GRCh38:
Chr3:4665189
ITPR1L521F, L536FSpinocerebellar ataxia type 29Likely benign
(Feb 9, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr3:4753474
GRCh38:
Chr3:4711790
ITPR1E1660D, E1651D, E1666D, E1675DSpinocerebellar ataxia type 29Likely benign
(Feb 9, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr3:4741524
GRCh38:
Chr3:4699840
ITPR1H1464Y, H1455Y, H1470Y, H1479YSpinocerebellar ataxia type 29Likely benign
(Feb 9, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr3:4853028
GRCh38:
Chr3:4811344
ITPR1L2436P, L2388P, L2403P, L2451PSpinocerebellar ataxia type 29Pathogenic
(Feb 9, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr3:4821291
GRCh38:
Chr3:4779607
ITPR1A2102S, A2054S, A2069S, A2117SAutosomal dominant cerebellar ataxia, Spinocerebellar ataxia type 29, not provided
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr3:4706969
GRCh38:
Chr3:4665285
ITPR1R553G, R568GSpinocerebellar ataxia type 29Pathogenic
(Feb 9, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr3:4687293
GRCh38:
Chr3:4645609
ITPR1E246Knot provided, Spinocerebellar ataxia type 29, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Feb 26, 2019)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr3:4726852
GRCh38:
Chr3:4685168
ITPR1A1207T, A1213T, A1198T, A1222TGillespie syndrome, Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 29,
not specified, not provided, Inborn genetic diseases
Uncertain significance
(Nov 17, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr3:4854866
GRCh38:
Chr3:4813182
ITPR1not specified, not provided, Autosomal dominant cerebellar ataxia,
Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 29, Gillespie syndrome
Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr3:4738837
GRCh38:
Chr3:4697153
ITPR1I1406V, I1415V, I1421V, I1430Vnot provided, not specified, Autosomal dominant cerebellar ataxia,
Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 29, Gillespie syndrome
Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr3:4735398
GRCh38:
Chr3:4693714
ITPR1not provided, not specified, Spinocerebellar ataxia type 15/16,
Spinocerebellar ataxia type 29, Gillespie syndrome, Autosomal dominant cerebellar ataxia
Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr3:4732944
GRCh38:
Chr3:4691260
ITPR1not provided, not specified, Spinocerebellar ataxia type 15/16,
Spinocerebellar ataxia type 29, Gillespie syndrome, Autosomal dominant cerebellar ataxia
Benign/Likely benign
(Oct 29, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr3:4730181
GRCh38:
Chr3:4688497
ITPR1not specified, Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 29,
Gillespie syndrome, Autosomal dominant cerebellar ataxia, not provided
Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr3:4725445
GRCh38:
Chr3:4683761
ITPR1D1139G, D1130G, D1145G, D1154GSpinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16, Gillespie syndrome,
Spinocerebellar ataxia type 29, not provided, Autosomal dominant cerebellar ataxia
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr3:4725441
GRCh38:
Chr3:4683757
ITPR1M1129V, M1138V, M1144V, M1153Vnot provided, Spinocerebellar ataxia type 29, Autosomal dominant cerebellar ataxia
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr3:4716885
GRCh38:
Chr3:4675201
ITPR1A896V, A911Vnot provided, Spinocerebellar ataxia type 29, Autosomal dominant cerebellar ataxia,
Inborn genetic diseases		Conflicting interpretations of pathogenicity
(Jun 2, 2023)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr3:4715048
GRCh38:
Chr3:4673364
ITPR1not provided, not specified, Spinocerebellar ataxia type 15/16,
Spinocerebellar ataxia type 29, Gillespie syndrome, Autosomal dominant cerebellar ataxia
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr3:4703816
GRCh38:
Chr3:4662132
ITPR1not provided, not specified, Spinocerebellar ataxia type 15/16,
Spinocerebellar ataxia type 29, Gillespie syndrome, Autosomal dominant cerebellar ataxia
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr3:4558232
GRCh38:
Chr3:4516548
ITPR1not specified, not provided, Spinocerebellar ataxia type 15/16,
Spinocerebellar ataxia type 29, Gillespie syndrome, Autosomal dominant cerebellar ataxia
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr3:4687362
GRCh38:
Chr3:4645678
ITPR1R269WNeurodevelopmental disorder, Inborn genetic diseases, Spinocerebellar ataxia type 29,
Spinocerebellar ataxia type 15/16, Gillespie syndrome, Gillespie syndrome,
not provided, Spinocerebellar ataxia type 29		Conflicting interpretations of pathogenicity
(May 25, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr3:4776998
GRCh38:
Chr3:4735314
ITPR1L1787P, L1820P, L1772P, L1835PSpinocerebellar ataxia type 29Pathogenic
(Aug 1, 2016)		no assertion criteria provided
52.
GRCh37:
Chr3:4856819
GRCh38:
Chr3:4815135
ITPR1, LOC126806590G2547A, G2580A, G2532A, G2595ASpinocerebellar ataxia type 29Likely pathogenic
(Aug 18, 2015)		criteria provided, single submitter
53.
GRCh37:
Chr3:4856205
GRCh38:
Chr3:4814521
ITPR1, LOC126806590G2539R, G2491R, G2506R, G2554RInborn genetic diseases, not provided, Spinocerebellar ataxia type 29,
Gillespie syndrome		Pathogenic/Likely pathogenic
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr3:4687387
GRCh38:
Chr3:4645703
ITPR1S277ISpinocerebellar ataxia type 29Likely pathogenic
(Oct 1, 2013)		criteria provided, single submitter
55.
GRCh37:
Chr3:4687357
GRCh38:
Chr3:4645673
ITPR1T267MInborn genetic diseases, not provided, Spinocerebellar ataxia type 29,
Spinocerebellar ataxia type 15/16		Conflicting interpretations of pathogenicity
(May 24, 2023)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr3:4856234
GRCh38:
Chr3:4814550
ITPR1, LOC126806590Autosomal dominant cerebellar ataxia, not provided, Spinocerebellar ataxia type 29,
Spinocerebellar ataxia type 15/16, Gillespie syndrome		Benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr3:4856180
GRCh38:
Chr3:4814496
ITPR1, LOC126806590Autosomal dominant cerebellar ataxia, not provided, Spinocerebellar ataxia type 29,
Spinocerebellar ataxia type 15/16, Gillespie syndrome		Benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr3:4842231
GRCh38:
Chr3:4800547
ITPR1Autosomal dominant cerebellar ataxia, not specified, not provided,
Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16, Gillespie syndrome
Benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr3:4716811
GRCh38:
Chr3:4675127
ITPR1Autosomal dominant cerebellar ataxia, not provided, Spinocerebellar ataxia type 29,
Spinocerebellar ataxia type 15/16, Gillespie syndrome		Benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr3:4712413
GRCh38:
Chr3:4670729
ITPR1Autosomal dominant cerebellar ataxia, not provided, Spinocerebellar ataxia type 29,
Spinocerebellar ataxia type 15/16, Gillespie syndrome		Benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr3:4709151
GRCh38:
Chr3:4667467
ITPR1N602D, N587DSpinocerebellar ataxia type 29Pathogenic
(Jun 17, 2022)		no assertion criteria provided
62.
GRCh37:
Chr3:4747877
GRCh38:
Chr3:4706193
ITPR1V1553M, V1547M, V1538M, V1562MInborn genetic diseases, not providedPathogenic
(Oct 23, 2020)		criteria provided, multiple submitters, no conflicts
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