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Links from MedGen

Items: 23

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr4:186066137
GRCh38:
Chr4:185144983
SLC25A4R111Snot provided, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		Uncertain significance
(Nov 6, 2021)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr4:186068102
GRCh38:
Chr4:185146948
SLC25A4D292HMitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominantUncertain significance
(May 7, 2018)		criteria provided, single submitter
3.
GRCh37:
Chr4:186070600
GRCh38:
Chr4:185149446
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		Uncertain significance
(Aug 17, 2021)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr4:186071442
GRCh38:
Chr4:185150288
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		Uncertain significance
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr4:186071354
GRCh38:
Chr4:185150200
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		Uncertain significance
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr4:186071320
GRCh38:
Chr4:185150166
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		Uncertain significance
(Aug 9, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr4:186064462
GRCh38:
Chr4:185143308
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		Uncertain significance
(Sep 7, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr4:186069119
GRCh38:
Chr4:185147965
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		Uncertain significance
(Sep 29, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr4:186070741
GRCh38:
Chr4:185149587
SLC25A4Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		Uncertain significance
(Aug 23, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr4:186068276
GRCh38:
Chr4:185147122
SLC25A4Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		Uncertain significance
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr4:186066058
GRCh38:
Chr4:185144904
SLC25A4not provided, Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		Likely benign
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr4:186066044
GRCh38:
Chr4:185144890
SLC25A4R80GMitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominantLikely pathogenic
(Jun 15, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr1:16382201
GRCh38:
Chr1:16055706
CLCNKB, LOC106501713C626Y, C456YMitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, not specified, not provided
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr4:186071402
GRCh38:
Chr4:185150248
SLC25A4Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		Uncertain significance
(Oct 5, 2021)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr4:186071401
GRCh38:
Chr4:185150247
SLC25A4Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr4:186070949
GRCh38:
Chr4:185149795
SLC25A4Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		Uncertain significance
(Sep 30, 2021)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr4:186070717
GRCh38:
Chr4:185149563
SLC25A4Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		Uncertain significance
(Oct 18, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr4:186069288
GRCh38:
Chr4:185148134
SLC25A4Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		Uncertain significance
(Aug 23, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr4:186068949
GRCh38:
Chr4:185147795
SLC25A4Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		Uncertain significance
(Oct 1, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr4:186067017
GRCh38:
Chr4:185145863
SLC25A4R235GMitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial diseasePathogenic
(Nov 15, 2016)		no assertion criteria provided
21.
GRCh37:
Chr4:186066045
GRCh38:
Chr4:185144891
SLC25A4R80Hnot provided, Inborn genetic diseases, Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Pathogenic
(Jul 31, 2023)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr4:186067983
GRCh38:
Chr4:185146829
SLC25A4T252MProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive,
not provided		Uncertain significance
(Jun 22, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr13:78475230
GRCh38:
Chr13:77901095
EDNRB, EDNRB-AS1S305N, S395NMitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, not specified, not provided,
Hirschsprung disease, susceptibility to, 2, Waardenburg syndrome type 4A, Waardenburg syndrome type 2A
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
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