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Items: 1 to 100 of 177

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr10:30602392
GRCh38:
Chr10:30313463
MTPAPnot providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001196895
2.
GRCh37:
Chr10:30602551
GRCh38:
Chr10:30313622
MTPAPS579Nnot providedUncertain significance
(Nov 20, 2021)
criteria provided, single submitterVCV001429438
3.
GRCh37:
Chr10:30602614
GRCh38:
Chr10:30313685
MTPAPL558PSpastic ataxia 4Uncertain significance
(Feb 23, 2020)
criteria provided, single submitterVCV001028088
4.
GRCh37:
Chr10:30602620
GRCh38:
Chr10:30313691
MTPAPN556Tnot providedUncertain significance
(Mar 22, 2020)
criteria provided, single submitterVCV000994684
5.
GRCh37:
Chr10:30602644
GRCh38:
Chr10:30313715
MTPAPK548Tnot specified, not providedUncertain significance
(Oct 16, 2021)
criteria provided, multiple submitters, no conflictsVCV000447742
6.
GRCh37:
Chr10:30602647
GRCh38:
Chr10:30313718
MTPAPN547Snot specifiedLikely benign
(Jan 24, 2017)
criteria provided, single submitterVCV000506930
7.
GRCh37:
Chr10:30602650
GRCh38:
Chr10:30313721
MTPAPS546Nnot specified, not providedBenign/Likely benign
(Dec 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000378180
8.
GRCh37:
Chr10:30602680
GRCh38:
Chr10:30313751
MTPAPP536Rnot specified, not providedConflicting interpretations of pathogenicity
(Dec 16, 2021)
criteria provided, conflicting interpretationsVCV000447741
9.
GRCh37:
Chr10:30602722
GRCh38:
Chr10:30313793
MTPAPN522Snot providedUncertain significance
(Nov 12, 2021)
criteria provided, single submitterVCV001359213
10.
GRCh37:
Chr10:30602737
GRCh38:
Chr10:30313808
MTPAPP517Lnot providedUncertain significance
(Oct 25, 2021)
criteria provided, single submitterVCV001494230
11.
GRCh37:
Chr10:30602741
GRCh38:
Chr10:30313812
MTPAPR516Gnot providedUncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001429705
12.
GRCh37:
Chr10:30602743
GRCh38:
Chr10:30313814
MTPAPD515Anot providedUncertain significance
(Oct 19, 2021)
criteria provided, single submitterVCV001447716
13.
GRCh37:
Chr10:30602754
GRCh38:
Chr10:30313825
MTPAPQ511Hnot providedUncertain significance
(Dec 1, 2021)
criteria provided, single submitterVCV001365285
14.
GRCh37:
Chr10:30602796
GRCh38:
Chr10:30313867
MTPAPK497Nnot providedUncertain significance
(Oct 11, 2021)
criteria provided, single submitterVCV001386022
15.
GRCh37:
Chr10:30602802
GRCh38:
Chr10:30313873
MTPAPnot providedBenign
(Nov 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000586157
16.
GRCh37:
Chr10:30602803
GRCh38:
Chr10:30313874
MTPAPL495Rnot providedLikely pathogenic
(Nov 19, 2021)
criteria provided, single submitterVCV001326255
17.
GRCh37:
Chr10:30602819
GRCh38:
Chr10:30313890
MTPAPV490LSpastic ataxia 4Uncertain significance
(Jul 1, 2015)
no assertion criteria providedVCV000374341
18.
GRCh37:
Chr10:30602823
GRCh38:
Chr10:30313894
MTPAPK488NSpastic ataxiaLikely pathogenic
(Jul 12, 2021)
criteria provided, single submitterVCV001027494
19.
GRCh37:
Chr10:30602842
GRCh38:
Chr10:30313913
MTPAPT482Inot providedUncertain significance
(Nov 8, 2021)
criteria provided, single submitterVCV001355851
20.
GRCh37:
Chr10:30602855
GRCh38:
Chr10:30313926
MTPAPN478DSpastic ataxia 4Pathogenic
(Dec 1, 2014)
no assertion criteria providedVCV000018391
21.
GRCh37:
Chr10:30602894
GRCh38:
Chr10:30313965
MTPAPE465Knot specifiedUncertain significance
(May 23, 2017)
criteria provided, single submitterVCV000447740
22.
GRCh37:
Chr10:30602901
GRCh38:
Chr10:30313972
MTPAPnot providedUncertain significance
(Nov 5, 2019)
criteria provided, single submitterVCV000994651
23.
GRCh37:
Chr10:30602990
GRCh38:
Chr10:30314061
MTPAPnot providedLikely benign
(Oct 5, 2018)
criteria provided, single submitterVCV001216002
24.
GRCh37:
Chr10:30602997
GRCh38:
Chr10:30314068
MTPAPnot providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001202974
25.
GRCh37:
Chr10:30603195
GRCh38:
Chr10:30314266
MTPAPnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000673194
26.
GRCh37:
Chr10:30604651
GRCh38:
Chr10:30315722
MTPAPnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000673315
27.
GRCh37:
Chr10:30604761
GRCh38:
Chr10:30315832
MTPAPnot providedLikely benign
(Dec 5, 2018)
criteria provided, single submitterVCV001195340
28.
GRCh37:
Chr10:30604778
GRCh38:
Chr10:30315849
MTPAPnot providedBenign
(Aug 3, 2018)
criteria provided, single submitterVCV001294250
29.
GRCh37:
Chr10:30604785
GRCh38:
Chr10:30315856
MTPAPnot providedBenign
(Jun 29, 2018)
criteria provided, single submitterVCV001295258
30.
GRCh37:
Chr10:30604874
GRCh38:
Chr10:30315945
MTPAPnot providedLikely benign
(Nov 28, 2021)
criteria provided, single submitterVCV001632484
31.
GRCh37:
Chr10:30604886
GRCh38:
Chr10:30315957
MTPAPnot providedLikely benign
(Feb 25, 2020)
criteria provided, single submitterVCV000506832
32.
GRCh37:
Chr10:30604919
GRCh38:
Chr10:30315990
MTPAPnot providedLikely benign
(Oct 1, 2021)
criteria provided, single submitterVCV000761087
33.
GRCh37:
Chr10:30604925
GRCh38:
Chr10:30315996
MTPAPnot providedLikely benign
(May 8, 2020)
criteria provided, single submitterVCV000994650
34.
GRCh37:
Chr10:30604934
GRCh38:
Chr10:30316005
MTPAPF448Lnot providedUncertain significance
(Oct 9, 2019)
criteria provided, single submitterVCV001309355
35.
GRCh37:
Chr10:30604953
GRCh38:
Chr10:30316024
MTPAPK442Rnot providedUncertain significance
(Aug 11, 2020)
criteria provided, single submitterVCV000805054
36.
GRCh37:
Chr10:30604958
GRCh38:
Chr10:30316029
MTPAPnot providedLikely benign
(Nov 7, 2021)
criteria provided, single submitterVCV001615909
37.
GRCh37:
Chr10:30604968
GRCh38:
Chr10:30316039
MTPAPnot specified, not providedConflicting interpretations of pathogenicity
(Nov 23, 2021)
criteria provided, conflicting interpretationsVCV000515096
38.
GRCh37:
Chr10:30605042
GRCh38:
Chr10:30316113
MTPAPnot providedUncertain significance
(Oct 27, 2021)
criteria provided, single submitterVCV001364677
39.
GRCh37:
Chr10:30605044
GRCh38:
Chr10:30316115
MTPAPnot provided, not specifiedBenign/Likely benign
(Nov 22, 2021)
criteria provided, multiple submitters, no conflictsVCV000261004
40.
GRCh37:
Chr10:30605081
GRCh38:
Chr10:30316152
MTPAPnot provided, not specifiedBenign/Likely benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflictsVCV000378179
41.
GRCh37:
Chr10:30605099
GRCh38:
Chr10:30316170
MTPAPnot specifiedLikely benign
(Jun 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000518001
42.
GRCh37:
Chr10:30605104
GRCh38:
Chr10:30316175
MTPAPC419Gnot providedUncertain significance
(Jun 28, 2018)
criteria provided, single submitterVCV000586156
43.
GRCh37:
Chr10:30605115
GRCh38:
Chr10:30316186
MTPAPE415Gnot providedUncertain significance
(Jul 1, 2021)
criteria provided, single submitterVCV001331214
44.
GRCh37:
Chr10:30605146
GRCh38:
Chr10:30316217
MTPAPnot providedLikely benign
(Nov 24, 2021)
criteria provided, single submitterVCV001570127
45.
GRCh37:
Chr10:30605146
GRCh38:
Chr10:30316217
MTPAPnot providedLikely benign
(Aug 16, 2017)
criteria provided, single submitterVCV000770204
46.
GRCh37:
Chr10:30605148
GRCh38:
Chr10:30316219
MTPAPnot providedLikely benign
(Aug 15, 2017)
criteria provided, single submitterVCV000770205
47.
GRCh37:
Chr10:30605410
GRCh38:
Chr10:30316481
MTPAPnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000671782
48.
GRCh37:
Chr10:30610995
GRCh38:
Chr10:30322066
MTPAPnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000672902
49.
GRCh37:
Chr10:30611128
GRCh38:
Chr10:30322199
MTPAPnot providedLikely benign
(Jun 28, 2018)
criteria provided, single submitterVCV001191093
50.
GRCh37:
Chr10:30611231
GRCh38:
Chr10:30322302
MTPAPnot providedLikely benign
(Jun 28, 2018)
criteria provided, single submitterVCV001186782
51.
GRCh37:
Chr10:30611283
GRCh38:
Chr10:30322354
MTPAPnot providedBenign
(Jun 29, 2018)
criteria provided, single submitterVCV001265523
52.
GRCh37:
Chr10:30611331
GRCh38:
Chr10:30322402
MTPAPK403Tnot providedUncertain significance
(Oct 24, 2021)
criteria provided, single submitterVCV001349432
53.
GRCh37:
Chr10:30611367
GRCh38:
Chr10:30322438
MTPAPR391Knot providedUncertain significance
(Nov 26, 2021)
criteria provided, single submitterVCV001427643
54.
GRCh37:
Chr10:30611377-30611378
GRCh38:
Chr10:30322448-30322449
MTPAPL388fsnot providedUncertain significance
(Dec 6, 2021)
criteria provided, single submitterVCV001428697
55.
GRCh37:
Chr10:30611411
GRCh38:
Chr10:30322482
MTPAPnot specifiedLikely benign
(Sep 16, 2016)
criteria provided, single submitterVCV000389046
56.
GRCh37:
Chr10:30611441
GRCh38:
Chr10:30322512
MTPAPnot specified, not providedLikely benign
(Jul 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000386286
57.
GRCh37:
Chr10:30611467
GRCh38:
Chr10:30322538
MTPAPR358WInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Jul 19, 2017)
criteria provided, conflicting interpretationsVCV000418340
58.
GRCh37:
Chr10:30611490
GRCh38:
Chr10:30322561
MTPAPV350Anot providedUncertain significance
(Dec 15, 2021)
criteria provided, single submitterVCV001397033
59.
GRCh37:
Chr10:30611503
GRCh38:
Chr10:30322574
MTPAPnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001252220
60.
GRCh37:
Chr10:30611527
GRCh38:
Chr10:30322598
MTPAPE338Knot providedUncertain significance
(Mar 1, 2018)
criteria provided, single submitterVCV000586155
61.
GRCh37:
Chr10:30611528
GRCh38:
Chr10:30322599
MTPAPnot specifiedLikely benign
(Nov 3, 2020)
criteria provided, single submitterVCV001256274
62.
GRCh37:
Chr10:30611532
GRCh38:
Chr10:30322603
MTPAPS336Inot providedLikely benign
(Dec 3, 2021)
criteria provided, single submitterVCV001552057
63.
GRCh37:
Chr10:30611614
GRCh38:
Chr10:30322685
MTPAPnot providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001275143
64.
GRCh37:
Chr10:30611774
GRCh38:
Chr10:30322845
MTPAPnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000684083
65.
GRCh37:
Chr10:30611841
GRCh38:
Chr10:30322912
MTPAPnot providedBenign
(Jul 27, 2018)
criteria provided, single submitterVCV001251041
66.
GRCh37:
Chr10:30615190
GRCh38:
Chr10:30326261
MTPAPnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000683223
67.
GRCh37:
Chr10:30615344
GRCh38:
Chr10:30326415
MTPAPnot providedLikely benign
(Dec 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000994689
68.
GRCh37:
Chr10:30615345
GRCh38:
Chr10:30326416
MTPAPnot provided, not specifiedBenign
(Nov 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000994688
69.
GRCh37:
Chr10:30615362
GRCh38:
Chr10:30326433
MTPAPT328Mnot providedUncertain significance
(Jun 16, 2020)
criteria provided, single submitterVCV000994687
70.
GRCh37:
Chr10:30615364
GRCh38:
Chr10:30326435
MTPAPnot providedLikely benign
(Aug 15, 2021)
criteria provided, multiple submitters, no conflictsVCV001219804
71.
GRCh37:
Chr10:30615385
GRCh38:
Chr10:30326456
MTPAPnot providedLikely benign
(Jan 13, 2020)
criteria provided, single submitterVCV000381066
72.
GRCh37:
Chr10:30615409
GRCh38:
Chr10:30326480
MTPAPnot providedLikely benign
(Jun 16, 2020)
criteria provided, single submitterVCV001196763
73.
GRCh37:
Chr10:30615412
GRCh38:
Chr10:30326483
MTPAPnot specifiedLikely benign
(Aug 11, 2017)
criteria provided, single submitterVCV000511275
74.
GRCh37:
Chr10:30615420
GRCh38:
Chr10:30326491
MTPAPR309Wnot providedUncertain significance
(Oct 27, 2021)
criteria provided, single submitterVCV001523308
75.
GRCh37:
Chr10:30615429
GRCh38:
Chr10:30326500
MTPAPnot providedBenign
(Oct 10, 2021)
criteria provided, multiple submitters, no conflictsVCV001179521
76.
GRCh37:
Chr10:30615457
GRCh38:
Chr10:30326528
MTPAPnot providedUncertain significance
(Apr 28, 2020)
criteria provided, single submitterVCV000994686
77.
GRCh37:
Chr10:30615462
GRCh38:
Chr10:30326533
MTPAPF295Lnot providedUncertain significance
(Oct 16, 2021)
criteria provided, single submitterVCV001497441
78.
GRCh37:
Chr10:30615487
GRCh38:
Chr10:30326558
MTPAPnot specifiedLikely benign
(Feb 12, 2016)
criteria provided, single submitterVCV000382484
79.
GRCh37:
Chr10:30615503
GRCh38:
Chr10:30326574
MTPAPT281SSpastic ataxia 4Uncertain significance
(Mar 27, 2019)
criteria provided, single submitterVCV001029511
80.
GRCh37:
Chr10:30615527
GRCh38:
Chr10:30326598
MTPAPN273Snot providedUncertain significance
(Mar 27, 2020)
criteria provided, single submitterVCV000994685
81.
GRCh37:
Chr10:30615534
GRCh38:
Chr10:30326605
MTPAPV271Mnot providedUncertain significance
(Nov 2, 2021)
criteria provided, single submitterVCV001509266
82.
GRCh37:
Chr10:30615537
GRCh38:
Chr10:30326608
MTPAPQ270Enot providedUncertain significance
(Oct 2, 2021)
criteria provided, single submitterVCV001443498
83.
GRCh37:
Chr10:30615554
GRCh38:
Chr10:30326625
MTPAPN264Snot providedUncertain significance
(Oct 22, 2021)
criteria provided, single submitterVCV001369709
84.
GRCh37:
Chr10:30615611
GRCh38:
Chr10:30326682
MTPAPnot providedLikely benign
(Dec 5, 2018)
criteria provided, single submitterVCV001202921
85.
GRCh37:
Chr10:30615618
GRCh38:
Chr10:30326689
MTPAPnot providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV001212421
86.
GRCh37:
Chr10:30615638
GRCh38:
Chr10:30326709
MTPAPnot providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001280190
87.
GRCh37:
Chr10:30625466
GRCh38:
Chr10:30336537
MTPAPnot providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001261824
88.
GRCh37:
Chr10:30625521
GRCh38:
Chr10:30336592
MTPAPnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000671665
89.
GRCh37:
Chr10:30625702
GRCh38:
Chr10:30336773
MTPAPnot providedLikely benign
(Jan 5, 2021)
criteria provided, single submitterVCV001195248
90.
GRCh37:
Chr10:30625723
GRCh38:
Chr10:30336794
MTPAPnot providedLikely benign
(Oct 10, 2021)
criteria provided, single submitterVCV001548845
91.
GRCh37:
Chr10:30625748
GRCh38:
Chr10:30336819
MTPAPN255Snot providedUncertain significance
(Oct 29, 2021)
criteria provided, single submitterVCV001439021
92.
GRCh37:
Chr10:30625764
GRCh38:
Chr10:30336835
MTPAPL250Vnot providedUncertain significance
(Dec 15, 2021)
criteria provided, single submitterVCV001441105
93.
GRCh37:
Chr10:30625813
GRCh38:
Chr10:30336884
MTPAPnot providedLikely benign
(Oct 21, 2021)
criteria provided, single submitterVCV001610666
94.
GRCh37:
Chr10:30625855
GRCh38:
Chr10:30336926
MTPAPnot providedLikely benign
(Mar 22, 2019)
criteria provided, single submitterVCV000805057
95.
GRCh37:
Chr10:30625857
GRCh38:
Chr10:30336928
MTPAPA219Tnot specifiedUncertain significance
(Jun 20, 2017)
criteria provided, single submitterVCV000447745
96.
GRCh37:
Chr10:30625858
GRCh38:
Chr10:30336929
MTPAPnot specifiedLikely benign
(Dec 13, 2016)
criteria provided, single submitterVCV000391384
97.
GRCh37:
Chr10:30625912
GRCh38:
Chr10:30336983
MTPAPnot providedLikely benign
(May 17, 2018)
criteria provided, single submitterVCV000682520
98.
GRCh37:
Chr10:30625915
GRCh38:
Chr10:30336986
MTPAPnot providedLikely benign
(Oct 22, 2021)
criteria provided, single submitterVCV001585515
99.
GRCh37:
Chr10:30625927
GRCh38:
Chr10:30336998
MTPAPnot providedBenign/Likely benign
(Dec 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000379864
100.
GRCh37:
Chr10:30625935
GRCh38:
Chr10:30337006
MTPAPL193Vnot providedUncertain significance
(Nov 13, 2021)
criteria provided, single submitterVCV001352459
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