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Links from MedGen

Items: 1 to 100 of 224

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:84668212
GRCh38:
Chr2:84441088
SUCLG1I183SMitochondrial DNA depletion syndrome 9Uncertain significance
(Aug 25, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr2:84658667
GRCh38:
Chr2:84431543
SUCLG1E264*Mitochondrial DNA depletion syndrome 9Likely pathogenic
(Dec 31, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr2:84650870-84686393
SUCLG1Mitochondrial DNA depletion syndrome 9Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr2:84660484
GRCh38:
Chr2:84433360
SUCLG1L222SMitochondrial DNA depletion syndrome 9Uncertain significance
(Jan 31, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr2:84652709
GRCh38:
Chr2:84425585
SUCLG1V282IMitochondrial DNA depletion syndrome 9, Inborn genetic diseasesUncertain significance
(Dec 20, 2021)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr2:84652549
GRCh38:
Chr2:84425425
SUCLG1T335MMitochondrial DNA depletion syndrome 9Uncertain significance
(Feb 8, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr2:84658776
GRCh38:
Chr2:84431652
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Aug 16, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr2:84668507
GRCh38:
Chr2:84441383
SUCLG1A132VMitochondrial DNA depletion syndrome 9Uncertain significance
(Jul 20, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr2:84686284
GRCh38:
Chr2:84459160
SUCLG1Mitochondrial DNA depletion syndrome 9Uncertain significance
(Mar 4, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr2:84668603
GRCh38:
Chr2:84441479
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Oct 17, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:84676842
GRCh38:
Chr2:84449718
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Aug 16, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:84670508
GRCh38:
Chr2:84443384
SUCLG1Q73LMitochondrial DNA depletion syndrome 9, Inborn genetic diseasesUncertain significance
(Aug 18, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr2:84668599
GRCh38:
Chr2:84441475
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jul 26, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr2:84686356
GRCh38:
Chr2:84459232
SUCLG1T13IMitochondrial DNA depletion syndrome 9Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr2:84686369
GRCh38:
Chr2:84459245
SUCLG1A9SMitochondrial DNA depletion syndrome 9Uncertain significance
(May 13, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr2:84686342
GRCh38:
Chr2:84459218
SUCLG1S18GMitochondrial DNA depletion syndrome 9Uncertain significance
(Dec 23, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr2:84686382
GRCh38:
Chr2:84459258
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Sep 18, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr2:84686349
GRCh38:
Chr2:84459225
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Oct 5, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr2:84670480
GRCh38:
Chr2:84443356
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Mar 1, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr2:84686304
GRCh38:
Chr2:84459180
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Mar 17, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr2:84658700
GRCh38:
Chr2:84431576
SUCLG1I253VMitochondrial DNA depletion syndrome 9Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr2:84676822
GRCh38:
Chr2:84449698
SUCLG1Y51CMitochondrial DNA depletion syndrome 9Uncertain significance
(Feb 20, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr2:84652716
GRCh38:
Chr2:84425592
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jun 14, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr2:84676796
GRCh38:
Chr2:84449672
SUCLG1C60SMitochondrial DNA depletion syndrome 9Uncertain significance
(Aug 20, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr2:84658626
GRCh38:
Chr2:84431502
SUCLG1Mitochondrial DNA depletion syndrome 9Uncertain significance
(May 2, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr2:84660516
GRCh38:
Chr2:84433392
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(May 10, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr2:84652728
GRCh38:
Chr2:84425604
SUCLG1Mitochondrial DNA depletion syndrome 9Likely pathogenic
(Apr 24, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr2:84668451
GRCh38:
Chr2:84441327
SUCLG1D151HMitochondrial DNA depletion syndrome 9Uncertain significance
(Jun 1, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr2:84652692
GRCh38:
Chr2:84425568
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Feb 28, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr2:84668519
GRCh38:
Chr2:84441395
SUCLG1A128DMitochondrial DNA depletion syndrome 9Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr2:84660483
GRCh38:
Chr2:84433359
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Feb 21, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:84668467
GRCh38:
Chr2:84441343
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Mar 24, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr2:84686360
GRCh38:
Chr2:84459236
SUCLG1A12SMitochondrial DNA depletion syndrome 9Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr2:84658765
GRCh38:
Chr2:84431641
SUCLG1F231SMitochondrial DNA depletion syndrome 9, not providedUncertain significance
(Nov 28, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:84668517
GRCh38:
Chr2:84441393
SUCLG1I129VMitochondrial DNA depletion syndrome 9Uncertain significance
(Aug 8, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr2:84660575
GRCh38:
Chr2:84433451
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jan 11, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr2:84668536
GRCh38:
Chr2:84441412
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(May 31, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr2:84658763
GRCh38:
Chr2:84431639
SUCLG1N232DMitochondrial DNA depletion syndrome 9Uncertain significance
(Feb 18, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr2:84652533
GRCh38:
Chr2:84425409
SUCLG1Mitochondrial DNA depletion syndrome 9Uncertain significance
(Apr 10, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr2:84670442
GRCh38:
Chr2:84443318
SUCLG1H95RMitochondrial DNA depletion syndrome 9Uncertain significance
(Jul 26, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:84660457
GRCh38:
Chr2:84433333
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Sep 20, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr2:84660495
GRCh38:
Chr2:84433371
SUCLG1Mitochondrial DNA depletion syndrome 9Uncertain significance
(Apr 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr2:84658769
GRCh38:
Chr2:84431645
SUCLG1P230SMitochondrial DNA depletion syndrome 9Uncertain significance
(Sep 7, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr2:84670454
GRCh38:
Chr2:84443330
SUCLG1G91EMitochondrial DNA depletion syndrome 9Uncertain significance
(May 30, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr2:84686377
GRCh38:
Chr2:84459253
SUCLG1A6VMitochondrial DNA depletion syndrome 9Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr2:84660548
GRCh38:
Chr2:84433424
SUCLG1R201GMitochondrial DNA depletion syndrome 9Uncertain significance
(Jul 26, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr2:84686393
GRCh38:
Chr2:84459269
SUCLG1M1LMitochondrial DNA depletion syndrome 9Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr2:84676855
GRCh38:
Chr2:84449731
SUCLG1H40RMitochondrial DNA depletion syndrome 9Likely benign
(Aug 23, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr2:84668458
GRCh38:
Chr2:84441334
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(May 31, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr2:84686329
GRCh38:
Chr2:84459205
SUCLG1A22VMitochondrial DNA depletion syndrome 9Uncertain significance
(Jun 7, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:84658737
GRCh38:
Chr2:84431613
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jul 8, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr2:84676885
GRCh38:
Chr2:84449761
SUCLG1Mitochondrial DNA depletion syndrome 9Uncertain significance
(Oct 3, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr2:84670441
GRCh38:
Chr2:84443317
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jul 8, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr2:84668554
GRCh38:
Chr2:84441430
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jul 6, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr2:84652604
GRCh38:
Chr2:84425480
SUCLG1A317PMitochondrial DNA depletion syndrome 9Uncertain significance
(Jul 3, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr2:84668401
GRCh38:
Chr2:84441277
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jun 23, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr2:84668232
GRCh38:
Chr2:84441108
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jun 16, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr2:84668154
GRCh38:
Chr2:84441030
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jun 2, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:84668197
GRCh38:
Chr2:84441073
SUCLG1G188AMitochondrial DNA depletion syndrome 9Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr2:84686382
GRCh38:
Chr2:84459258
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jan 28, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr2:84676780-84676781
GRCh38:
Chr2:84449656-84449657
SUCLG1G65NMitochondrial DNA depletion syndrome 9Uncertain significance
(Jul 25, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr2:84668380
GRCh38:
Chr2:84441256
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Mar 15, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr2:84660570
GRCh38:
Chr2:84433446
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Apr 11, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr2:84686294
GRCh38:
Chr2:84459170
SUCLG1Mitochondrial DNA depletion syndrome 9Uncertain significance
(Jan 11, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr2:84668211
GRCh38:
Chr2:84441087
SUCLG1I183MMitochondrial DNA depletion syndrome 9Uncertain significance
(Jun 8, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr2:84668513
GRCh38:
Chr2:84441389
SUCLG1N130SMitochondrial DNA depletion syndrome 9Uncertain significance
(May 18, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr2:84650902
GRCh38:
Chr2:84423778
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Aug 17, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr2:84668441
GRCh38:
Chr2:84441317
SUCLG1R154QMitochondrial DNA depletion syndrome 9Uncertain significance
(Jun 24, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr2:84660577
GRCh38:
Chr2:84433453
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jul 16, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr2:84686297
GRCh38:
Chr2:84459173
SUCLG1L33VMitochondrial DNA depletion syndrome 9Uncertain significance
(Jul 19, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr2:84660457
GRCh38:
Chr2:84433333
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jun 21, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr2:84686331
GRCh38:
Chr2:84459207
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Dec 14, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr2:84676887-84676901
GRCh38:
Chr2:84449763-84449777
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Oct 21, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr2:84668587
GRCh38:
Chr2:84441463
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Mar 2, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr2:84660518
GRCh38:
Chr2:84433394
SUCLG1H211YMitochondrial DNA depletion syndrome 9Uncertain significance
(Oct 25, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr2:84658738
GRCh38:
Chr2:84431614
SUCLG1L240RMitochondrial DNA depletion syndrome 9Conflicting interpretations of pathogenicity
(Dec 7, 2022)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr2:84668493
GRCh38:
Chr2:84441369
SUCLG1I137VMitochondrial DNA depletion syndrome 9Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr2:84668390
GRCh38:
Chr2:84441266
SUCLG1N171SMitochondrial DNA depletion syndrome 9Uncertain significance
(Sep 28, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr2:84668444
GRCh38:
Chr2:84441320
SUCLG1V153EMitochondrial DNA depletion syndrome 9Pathogenic
(May 4, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr2:84660506
GRCh38:
Chr2:84433382
SUCLG1Q215*Mitochondrial DNA depletion syndrome 9Pathogenic
(May 4, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr2:84668356
GRCh38:
Chr2:84441232
SUCLG1Mitochondrial DNA depletion syndrome 9Benign
(Aug 24, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr2:84652617
GRCh38:
Chr2:84425493
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jan 28, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr2:84652665
GRCh38:
Chr2:84425541
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Feb 10, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr2:84668596
GRCh38:
Chr2:84441472
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Aug 15, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr2:84670536
GRCh38:
Chr2:84443412
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Aug 6, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr2:84676821
GRCh38:
Chr2:84449697
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Oct 24, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr2:84668600
GRCh38:
Chr2:84441476
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Feb 2, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr2:84650914
GRCh38:
Chr2:84423790
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Sep 17, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr2:84670391
GRCh38:
Chr2:84443267
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Aug 12, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr2:84668364
GRCh38:
Chr2:84441240
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Feb 3, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr2:84676884
GRCh38:
Chr2:84449760
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jul 7, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr2:84658801
GRCh38:
Chr2:84431677
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Aug 28, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr2:84668383
GRCh38:
Chr2:84441259
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jul 12, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr2:84676887-84676900
GRCh38:
Chr2:84449763-84449776
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Sep 2, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr2:84670492
GRCh38:
Chr2:84443368
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Aug 9, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr2:84676895
GRCh38:
Chr2:84449771
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Sep 7, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr2:84652563
GRCh38:
Chr2:84425439
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Jun 29, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr2:84658722
GRCh38:
Chr2:84431598
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Sep 23, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr2:84676815
GRCh38:
Chr2:84449691
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Oct 30, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr2:84660497
GRCh38:
Chr2:84433373
SUCLG1Mitochondrial DNA depletion syndrome 9Likely benign
(Sep 17, 2021)
criteria provided, single submitter
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