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Links from MedGen

Items: 1 to 100 of 264

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:10161
GRCh38:
ChrMT:10161
MT-ND3Mitochondrial diseaseUncertain significance
(Feb 15, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr15:89873415
Chr15:89868870
GRCh38:
Chr15:89330184
Chr15:89325639
POLG, POLGARF, POLG, POLGARFT251I, P587LPOLG-Related Spectrum DisordersPathogenic
(Jun 7, 2022)
criteria provided, single submitter
3.
GRCh37:
ChrMT:13379
GRCh38:
ChrMT:13379
MT-ND5Mitochondrial diseaseUncertain significance
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
4.
GRCh37:
Chr11:78189540-78189542
GRCh38:
Chr11:78478494-78478496
NARS2Mitochondrial diseasePathogenicno assertion criteria provided
5.
GRCh37:
ChrMT:7028
GRCh38:
ChrMT:7028
MT-CO1Mitochondrial diseaseBenign
(Mar 24, 2022)
reviewed by expert panel
FDA Recognized Database
6.
GRCh37:
Chr21:26965149
GRCh38:
Chr21:25592837
MRPL39G299VMitochondrial diseaseLikely pathogenic
(Mar 24, 2022)
no assertion criteria provided
7.
GRCh37:
ChrMT:4735
GRCh38:
ChrMT:4735
MT-ND2Mitochondrial diseaseUncertain significance
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
8.
GRCh37:
ChrMT:7092
GRCh38:
ChrMT:7092
MT-CO1Mitochondrial diseaseUncertain significance
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
9.
GRCh37:
ChrMT:10172
GRCh38:
ChrMT:10172
MT-ND3Mitochondrial diseaseLikely benign
(Oct 26, 2021)
reviewed by expert panel
FDA Recognized Database
10.
GRCh37:
Chr12:32895656
GRCh38:
Chr12:32742722
DNM1LR507G, R673G, R684G, R686G, R699G, R710G, R712G, R723GMitochondrial diseaseLikely pathogenic
(Oct 8, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr12:32871642-32871643
GRCh38:
Chr12:32718708-32718709
DNM1Lnot provided, Mitochondrial diseaseConflicting interpretations of pathogenicity
(Jul 1, 2022)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr12:32883956
GRCh38:
Chr12:32731022
DNM1LG160D, G363D, G376DMitochondrial diseaseLikely pathogenic
(Oct 8, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr12:32884290
GRCh38:
Chr12:32731356
DNM1LG198S, G401S, G414SMitochondrial diseaseLikely pathogenic
(Oct 8, 2021)
criteria provided, single submitter
14.
GRCh37:
ChrMT:8936
GRCh38:
ChrMT:8936
MT-ATP6Mitochondrial diseaseUncertain significance
(Mar 22, 2021)
reviewed by expert panel
FDA Recognized Database
15.
GRCh37:
Chr4:89443093-89443094
GRCh38:
Chr4:88521942-88521943
PIGY, PYURFQ97fsMitochondrial diseasePathogenic
(Jan 18, 2021)
no assertion criteria provided
16.
GRCh37:
ChrMT:13379
GRCh38:
ChrMT:13379
MT-ND5Mitochondrial diseaseUncertain significance
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
17.
GRCh37:
ChrMT:12316
GRCh38:
ChrMT:12316
MT-TL2Mitochondrial diseaseUncertain significance
(Feb 27, 2023)
reviewed by expert panel
FDA Recognized Database
18.
GRCh37:
ChrMT:12294
GRCh38:
ChrMT:12294
MT-TL2Mitochondrial diseaseUncertain significance
(Oct 24, 2022)
reviewed by expert panel
FDA Recognized Database
19.
GRCh37:
ChrMT:5690
GRCh38:
ChrMT:5690
MT-TNMitochondrial diseaseLikely pathogenic
(Jan 9, 2023)
reviewed by expert panel
FDA Recognized Database
20.
GRCh37:
ChrMT:9155
GRCh38:
ChrMT:9155
MT-ATP6Mitochondrial diseaseLikely pathogenic
(Jul 25, 2022)
reviewed by expert panel
FDA Recognized Database
21.
GRCh37:
ChrMT:3280
GRCh38:
ChrMT:3280
MT-TL1Mitochondrial diseaseUncertain significance
(Aug 23, 2022)
reviewed by expert panel
FDA Recognized Database
22.
GRCh37:
ChrMT:3258
GRCh38:
ChrMT:3258
MT-TL1Mitochondrial diseaseLikely pathogenic
(Aug 8, 2022)
reviewed by expert panel
FDA Recognized Database
23.
GRCh37:
ChrMT:4450
GRCh38:
ChrMT:4450
MT-TMMitochondrial diseaseLikely pathogenic
(Feb 27, 2023)
reviewed by expert panel
FDA Recognized Database
24.
GRCh37:
ChrMT:8306
GRCh38:
ChrMT:8306
MT-TKMitochondrial diseaseUncertain significance
(Oct 24, 2022)
reviewed by expert panel
FDA Recognized Database
25.
GRCh37:
Chr15:89859882
GRCh38:
Chr15:89316651
FANCI, POLG, POLGARFMitochondrial diseaseUncertain significance
(May 6, 2021)
reviewed by expert panel
FDA Recognized Database
26.
GRCh37:
Chr15:89859562
GRCh38:
Chr15:89316331
FANCI, POLGARF, POLGMitochondrial diseaseUncertain significance
(May 6, 2021)
reviewed by expert panel
FDA Recognized Database
27.
GRCh37:
ChrMT:15958
GRCh38:
ChrMT:15958
MT-TPMitochondrial diseasePathogenic
(Oct 1, 2019)
no assertion criteria provided
28.
GRCh37:
ChrMT:590
GRCh38:
ChrMT:590
MT-TFMitochondrial diseasePathogenic
(Oct 1, 2019)
no assertion criteria provided
29.
GRCh37:
Chr11:77781026-77781047
GRCh38:
Chr11:78069980-78070001
NDUFC2, NDUFC2-KCTD14H93fs, H116fsMitochondrial diseasePathogenic
(Feb 10, 2020)
criteria provided, single submitter
30.
GRCh37:
Chr11:77784181
GRCh38:
Chr11:78073135
NDUFC2, NDUFC2-KCTD14H58LMitochondrial diseasePathogenic
(Feb 10, 2020)
criteria provided, single submitter
31.
GRCh37:
ChrMT:14724
GRCh38:
ChrMT:14724
MT-TEMitochondrial disease, Abnormal basal ganglia MRI signal intensity, Gonadal dysgenesis,
Cerebellar ataxia, Progressive spastic paraparesis
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
ChrMT:3761
GRCh38:
ChrMT:3761
MT-ND1Mitochondrial diseasePathogenic
(Dec 9, 2019)
criteria provided, single submitter
33.
GRCh37:
ChrMT:14512-14513
GRCh38:
ChrMT:14512-14513
MT-ND6Mitochondrial diseasePathogenic
(Dec 9, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:15117
GRCh38:
ChrMT:15117
MT-CYBMitochondrial diseaseUncertain significance
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
35.
GRCh37:
ChrMT:13094
GRCh38:
ChrMT:13094
MT-ND5Mitochondrial diseasePathogenic
(Jul 25, 2022)
reviewed by expert panel
FDA Recognized Database
36.
GRCh37:
ChrMT:12544
GRCh38:
ChrMT:12544
MT-ND5Mitochondrial diseaseUncertain significance
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
37.
GRCh37:
ChrMT:9055
GRCh38:
ChrMT:9055
MT-ATP6Mitochondrial diseaseBenign
(Oct 26, 2021)
reviewed by expert panel
FDA Recognized Database
38.
GRCh37:
ChrMT:9032
GRCh38:
ChrMT:9032
MT-ATP6Mitochondrial diseaseUncertain significance
(Oct 26, 2021)
reviewed by expert panel
FDA Recognized Database
39.
GRCh37:
ChrMT:9026
GRCh38:
ChrMT:9026
MT-ATP6Mitochondrial diseaseUncertain significance
(Mar 22, 2021)
reviewed by expert panel
FDA Recognized Database
40.
GRCh37:
ChrMT:8557
GRCh38:
ChrMT:8557
MT-ATP6, MT-ATP8Mitochondrial diseaseBenign
(Mar 24, 2022)
reviewed by expert panel
FDA Recognized Database
41.
GRCh37:
ChrMT:5293
GRCh38:
ChrMT:5293
MT-ND2Mitochondrial diseaseLikely benign
(Mar 24, 2022)
reviewed by expert panel
FDA Recognized Database
42.
GRCh37:
ChrMT:4935
GRCh38:
ChrMT:4935
MT-ND2Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
43.
GRCh37:
ChrMT:3357
GRCh38:
ChrMT:3357
MT-ND1Mitochondrial diseaseUncertain significance
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
44.
GRCh37:
Chr1:227170684-227170685
GRCh38:
Chr1:226982983-226982984
COQ8AMitochondrial diseaseLikely pathogenic
(Sep 18, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr1:227165830-227170352
GRCh38:
Chr1:226978129-226982651
COQ8AMitochondrial diseaseLikely pathogenic
(Sep 18, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr17:79213202-79213203
GRCh38:
Chr17:81239402-81239403
NDUFAF8F18fsMitochondrial diseasePathogenic
(Oct 9, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr17:79213164
GRCh38:
Chr17:81239364
NDUFAF8M1VMitochondrial diseasePathogenic
(Oct 9, 2019)
criteria provided, single submitter
48.
GRCh37:
Chr17:79213749
GRCh38:
Chr17:81239949
NDUFAF8Mitochondrial complex 1 deficiency, nuclear type 34, not provided, Mitochondrial disease
Pathogenic/Likely pathogenic
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr17:79213448
GRCh38:
Chr17:81239648
NDUFAF8F55LMitochondrial diseaseLikely pathogenic
(Oct 9, 2019)
criteria provided, single submitter
50.
GRCh37:
ChrMT:9035
GRCh38:
ChrMT:9035
MT-ATP6Mitochondrial diseaseLikely pathogenic
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
51.
GRCh37:
ChrMT:14710
GRCh38:
ChrMT:14710
MT-TEMitochondrial diseaseUncertain significance
(Dec 15, 2022)
reviewed by expert panel
FDA Recognized Database
52.
GRCh37:
ChrMT:12308
GRCh38:
ChrMT:12308
MT-TL2Mitochondrial diseaseBenign
(Jan 10, 2022)
reviewed by expert panel
FDA Recognized Database
53.
GRCh37:
ChrMT:12293
GRCh38:
ChrMT:12293
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
54.
GRCh37:
ChrMT:12278
GRCh38:
ChrMT:12278
MT-TL2Mitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
ChrMT:12276
GRCh38:
ChrMT:12276
MT-TL2Mitochondrial diseaseLikely pathogenic
(Nov 30, 2022)
reviewed by expert panel
FDA Recognized Database
56.
GRCh37:
ChrMT:10455
GRCh38:
ChrMT:10455
MT-TRMitochondrial diseaseUncertain significance
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
57.
GRCh37:
ChrMT:10406
GRCh38:
ChrMT:10406
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial diseasePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
ChrMT:10034
GRCh38:
ChrMT:10034
MT-TGMitochondrial diseaseBenign
(Mar 24, 2022)
reviewed by expert panel
FDA Recognized Database
59.
GRCh37:
ChrMT:7566
GRCh38:
ChrMT:7566
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial diseasePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
ChrMT:5672
GRCh38:
ChrMT:5672
MT-TNJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
61.
GRCh37:
ChrMT:5558
GRCh38:
ChrMT:5558
MT-TWMitochondrial diseaseUncertain significance
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
62.
GRCh37:
ChrMT:5538
GRCh38:
ChrMT:5538
MT-TWMitochondrial diseaseUncertain significance
(Oct 26, 2021)
reviewed by expert panel
FDA Recognized Database
63.
GRCh37:
ChrMT:4327
GRCh38:
ChrMT:4327
MT-TIJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
64.
GRCh37:
ChrMT:4308
GRCh38:
ChrMT:4308
MT-TIMitochondrial diseaseUncertain significance
(Oct 10, 2022)
reviewed by expert panel
FDA Recognized Database
65.
GRCh37:
ChrMT:4298
GRCh38:
ChrMT:4298
MT-TIMitochondrial diseaseUncertain significance
(Dec 12, 2022)
reviewed by expert panel
FDA Recognized Database
66.
GRCh37:
ChrMT:3302
GRCh38:
ChrMT:3302
MT-TL1Mitochondrial diseaseLikely pathogenic
(Nov 14, 2022)
reviewed by expert panel
FDA Recognized Database
67.
GRCh37:
ChrMT:3243
GRCh38:
ChrMT:3243
MT-TL1Mitochondrial diseaseLikely pathogenic
(Oct 10, 2022)
reviewed by expert panel
FDA Recognized Database
68.
GRCh37:
ChrMT:1644
GRCh38:
ChrMT:1644
MT-TVMitochondrial diseaseLikely pathogenic
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
69.
GRCh37:
ChrMT:1630
GRCh38:
ChrMT:1630
MT-TVMitochondrial diseaseUncertain significance
(Nov 14, 2022)
reviewed by expert panel
FDA Recognized Database
70.
GRCh37:
ChrMT:618
GRCh38:
ChrMT:618
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial diseasePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr15:89860931
GRCh38:
Chr15:89317700
POLGARF, POLGMitochondrial diseaseBenign
(May 6, 2021)
reviewed by expert panel
FDA Recognized Database
72.
GRCh37:
Chr15:89871499
GRCh38:
Chr15:89328268
POLG, POLGARFMitochondrial diseaseBenign
(May 7, 2021)
reviewed by expert panel
FDA Recognized Database
73.
GRCh37:
Chr15:89860559
GRCh38:
Chr15:89317328
POLGARF, POLGMitochondrial diseaseUncertain significance
(May 6, 2021)
reviewed by expert panel
FDA Recognized Database
74.
GRCh37:
Chr15:89860808
GRCh38:
Chr15:89317577
POLG, POLGARFMitochondrial diseaseBenign
(May 6, 2021)
reviewed by expert panel
FDA Recognized Database
75.
GRCh37:
Chr15:89860678
GRCh38:
Chr15:89317447
POLG, POLGARFK1191RMitochondrial diseaseUncertain significance
(May 6, 2021)
reviewed by expert panel
FDA Recognized Database
76.
GRCh37:
ChrMT:14633
GRCh38:
ChrMT:14633
MT-ND6Mitochondrial diseaseUncertain significance
(Mar 28, 2023)
reviewed by expert panel
FDA Recognized Database
77.
GRCh37:
ChrMT:15467
GRCh38:
ChrMT:15467
MT-CYBMitochondrial diseaseUncertain significance
(Mar 28, 2023)
reviewed by expert panel
FDA Recognized Database
78.
GRCh37:
Chr15:89860605
GRCh38:
Chr15:89317374
POLGARF, POLGMitochondrial diseasePathogenic
(May 6, 2021)
reviewed by expert panel
FDA Recognized Database
79.
GRCh37:
Chr15:89860727
GRCh38:
Chr15:89317496
POLG, POLGARFQ1175*Mitochondrial diseaseLikely pathogenic
(May 23, 2021)
reviewed by expert panel
FDA Recognized Database
80.
GRCh37:
Chr14:23239000
GRCh38:
Chr14:22769791
OXA1LC147FMitochondrial diseasePathogenic
(Jul 25, 2018)
no assertion criteria provided
81.
GRCh37:
Chr14:23237259-23237260
GRCh38:
Chr14:22768050-22768051
OXA1LS110fsMitochondrial diseasePathogenic
(Jul 25, 2018)
no assertion criteria provided
82.
GRCh37:
Chr22:42482219
GRCh38:
Chr22:42086215
NDUFA6L119fsMitochondrial complex 1 deficiency, nuclear type 33, Mitochondrial diseasePathogenic
(Dec 13, 2018)
no assertion criteria provided
83.
GRCh37:
Chr22:42482265
GRCh38:
Chr22:42086261
NDUFA6M104fsInborn genetic diseasesLikely pathogenic
(Jan 20, 2022)
criteria provided, single submitter
84.
GRCh37:
ChrMT:12372
GRCh38:
ChrMT:12372
MT-ND5not specified, Mitochondrial diseaseConflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
85.
GRCh37:
ChrMT:11467
GRCh38:
ChrMT:11467
MT-ND4not specified, Mitochondrial diseaseConflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr19:1244117
GRCh38:
Chr19:1244118
ATP5F1DV106GMitochondrial complex 5 (ATP synthase) deficiency nuclear type 5, Mitochondrial diseasePathogenic
(Sep 17, 2018)
no assertion criteria provided
87.
GRCh37:
Chr22:42482309
GRCh38:
Chr22:42086305
NDUFA6E89*Mitochondrial complex 1 deficiency, nuclear type 33, Mitochondrial diseasePathogenic
(Dec 13, 2018)
no assertion criteria provided
88.
GRCh37:
Chr22:42483128
GRCh38:
Chr22:42087124
NDUFA6R64PMitochondrial complex 1 deficiency, nuclear type 33, Mitochondrial diseasePathogenic
(Dec 13, 2018)
no assertion criteria provided
89.
GRCh37:
Chr22:42486746
GRCh38:
Chr22:42090742
NDUFA6M1IMitochondrial complex 1 deficiency, nuclear type 33, Mitochondrial diseasePathogenic
(Dec 13, 2018)
no assertion criteria provided
90.
GRCh37:
Chr22:42482242-42482243
GRCh38:
Chr22:42086238-42086239
NDUFA6E111fsMitochondrial complex 1 deficiency, nuclear type 33, Mitochondrial diseasePathogenic
(Dec 13, 2018)
no assertion criteria provided
91.
GRCh37:
Chr17:18208522
GRCh38:
Chr17:18305208
TOP3AR135*, R40*Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, Mitochondrial diseasePathogenic
(Sep 6, 2018)
no assertion criteria provided
92.
GRCh37:
Chr17:18211681
GRCh38:
Chr17:18308367
TOP3AM100VProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, Mitochondrial diseasePathogenic
(Sep 6, 2018)
no assertion criteria provided
93.
GRCh37:
ChrMT:4769
GRCh38:
ChrMT:4769
MT-ND2Mitochondrial diseaseBenign
(Mar 24, 2022)
reviewed by expert panel
FDA Recognized Database
94.
GRCh37:
Chr5:74054703
GRCh38:
Chr5:74758878
GFM2Y92S, Y124SCombined oxidative phosphorylation deficiency 39, Mitochondrial diseasePathogenic
(Apr 19, 2019)
no assertion criteria provided
95.
GRCh37:
Chr5:74041963
GRCh38:
Chr5:74746138
GFM2E213fs, E245fsCombined oxidative phosphorylation deficiency 39, Mitochondrial diseasePathogenic
(Apr 19, 2019)
no assertion criteria provided
96.
GRCh37:
ChrMT:7989
GRCh38:
ChrMT:7989
MT-CO2Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
97.
GRCh37:
ChrMT:13051
GRCh38:
ChrMT:13051
MT-ND5Leber optic atrophyPathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
ChrMT:12283
GRCh38:
ChrMT:12283
MT-TL2Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
99.
GRCh37:
ChrMT:12271
GRCh38:
ChrMT:12271
MT-TL2Mitochondrial diseasePathogenic
(May 4, 2022)
criteria provided, single submitter
100.
GRCh37:
ChrMT:12114-14420
GRCh38:
ChrMT:12114-14420
MT-ND4, MT-ND5, MT-ND6, MT-TH, MT-TL2, MT-TS2Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
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