The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Keyword Search Parameters
Keyword(s): MT-ATP6
In any of these fields: Gene
Uuid: 6cf1495e-53ff-4949-b2aa-ec1f11f3f24a
NC_012920.1:m.8993T>G
J01415.2:m.8993T>G
ENST00000361899.2:c.467T>G
J01415.2:m.8993T>G
ENST00000361899.2:c.467T>G
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Expert Panel(s)
Pathogenic
Evidence Links 0
Uuid: 78912cb6-b192-4466-9395-e4e013a9ef90
NC_012920.1:m.8993T>C
J01415.2:m.8993T>C
ENST00000361899.2:c.467T>C
J01415.2:m.8993T>C
ENST00000361899.2:c.467T>C
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Pathogenic
Evidence Links 1
Uuid: 8c4887bb-1511-411f-8136-172461d18622
NC_012920.1:m.9026G>A
J01415.2:m.9026G>A
ENST00000361899.2:n.500G>A
NC_012920.1(MT-ATP6):m.9026G>A
J01415.2:m.9026G>A
ENST00000361899.2:n.500G>A
NC_012920.1(MT-ATP6):m.9026G>A
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Uncertain Significance
Evidence Links 0
Uuid: a07bb60a-eb8b-42fb-b578-0939e125baca
NC_012920.1:m.8932C>T
J01415.2:m.8932C>T
ENST00000361899.2:n.406C>T
NC_012920.1(MT-ATP6):m.8932C>T
J01415.2:m.8932C>T
ENST00000361899.2:n.406C>T
NC_012920.1(MT-ATP6):m.8932C>T
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Benign
Evidence Links 4
Uuid: b279753c-4ebd-4f4f-945c-f9dbd39a3f05
NC_012920.1:m.8936T>A
J01415.2:m.8936T>A
ENST00000361899.2:c.410T>A
J01415.2:m.8936T>A
ENST00000361899.2:c.410T>A
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Uncertain Significance
Evidence Links 0
Uuid: deb388e1-396f-49b1-a9d2-1eec588b172c
NC_012920.1:m.9055G>A
J01415.2:m.9055G>A
ENST00000361899.2:n.529G>A
NC_012920.1(MT-ATP6):m.9055G>A
J01415.2:m.9055G>A
ENST00000361899.2:n.529G>A
NC_012920.1(MT-ATP6):m.9055G>A
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Benign
Evidence Links 3
Uuid: 34880844-b4da-4064-a8c0-6a3e6a05ad7c
NC_012920.1:m.9191T>C
J01415.2:m.9191T>C
ENST00000361899.2:n.665T>C
J01415.2:m.9191T>C
ENST00000361899.2:n.665T>C
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Expert Panel(s)
Likely Pathogenic
Evidence Links 1
Uuid: a799cd48-3a29-4e23-96fe-4f6445ba99d4
NC_012920.1:m.9176T>G
J01415.2:m.9176T>G
ENST00000361899.2:n.650T>G
J01415.2:m.9176T>G
ENST00000361899.2:n.650T>G
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Expert Panel(s)
Likely Pathogenic
Evidence Links 3
Uuid: 40d4031b-7f71-46c7-b0ec-dcbc5f538b7e
NC_012920.1:m.8851T>C
J01415.2:m.8851T>C
ENST00000361899.2:n.325T>C
J01415.2:m.8851T>C
ENST00000361899.2:n.325T>C
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Uncertain Significance
Evidence Links 1
Uuid: 01525dd6-279a-4cc4-8ed0-9d9186d0bf4f
NC_012920.1:m.8557G>A
J01415.2:m.8557G>A
ENST00000361851.1:c.192G>A
ENST00000361899.2:c.31G>A
J01415.2:m.8557G>A
ENST00000361851.1:c.192G>A
ENST00000361899.2:c.31G>A
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Benign
Evidence Links 0
Uuid: dba7e884-95cc-4e63-87f1-7f3604a9dea5
NC_012920.1:m.9185T>C
J01415.2:m.9185T>C
ENST00000361899.2:n.659T>C
J01415.2:m.9185T>C
ENST00000361899.2:n.659T>C
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Expert Panel(s)
Pathogenic
Evidence Links 0
Uuid: 7d8bbc0a-2bbd-48ce-8853-5d3dc1dffbf0
NC_012920.1:m.9176T>C
J01415.2:m.9176T>C
ENST00000361899.2:n.650T>C
J01415.2:m.9176T>C
ENST00000361899.2:n.650T>C
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Pathogenic
Evidence Links 2
Uuid: a29092c4-248c-4d4c-8b2b-e2145be5b4af
NC_012920.1:m.9205_9206del
J01415.2:m.9205_9206del
ENST00000361899.2:c.679_680del
J01415.2:m.9205_9206del
ENST00000361899.2:c.679_680del
Criteria Specification: Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Expert Panel(s)
Likely Pathogenic
Evidence Links 0
Uuid: d577fcd6-dcef-47c4-9f9f-69c138f748a4
NC_012920.1:m.8969G>A
J01415.2:m.8969G>A
ENST00000361899.2:n.443G>A
J01415.2:m.8969G>A
ENST00000361899.2:n.443G>A
Criteria Specification:ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Version: 1.0.0
Expert Panel(s)
Likely Pathogenic
Evidence Links 0
Uuid: 4406e032-85d0-428e-bba3-649609672a37
NC_012920.1:m.9035T>C
J01415.2:m.9035T>C
ENST00000361899.2:n.509T>C
NC_012920.1(MT-ATP6):m.9035T>C
J01415.2:m.9035T>C
ENST00000361899.2:n.509T>C
NC_012920.1(MT-ATP6):m.9035T>C
Criteria Specification:ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Version: 1.0.0
Likely Pathogenic
Evidence Links 0
Uuid: c1ae9220-4e74-423b-ae48-f73d8ece2832
NC_012920.1:m.9155A>G
J01415.2:m.9155A>G
ENST00000361899.2:c.629A>G
J01415.2:m.9155A>G
ENST00000361899.2:c.629A>G
Criteria Specification:ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Version: 1.0.0
Likely Pathogenic
Evidence Links 0
Uuid: 13da6c3a-c0f6-425b-a572-3f59b9754815
NC_012920.1:m.9038T>C
J01415.2:m.9038T>C
ENST00000361899.2:n.512T>C
NC_012920.1(MT-ATP6):m.9038T>C
J01415.2:m.9038T>C
ENST00000361899.2:n.512T>C
NC_012920.1(MT-ATP6):m.9038T>C
Criteria Specification:ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Version: 1.0.0
Uncertain Significance
Evidence Links 0
Uuid: c1200847-103a-491e-b17f-6e5a4ea94893
NC_012920.1:m.8803A>T
J01415.2:m.8803A>T
ENST00000361899.2:c.277A>T
NC_012920.1(MT-ATP6):m.8803A>T
J01415.2:m.8803A>T
ENST00000361899.2:c.277A>T
NC_012920.1(MT-ATP6):m.8803A>T
Criteria Specification:ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Version: 1.0.0
Uncertain Significance
Evidence Links 0
Uuid: 410eb9fb-4ff3-4452-b4e9-4ed304b0e126
NC_012920.1:m.9091A>G
J01415.2:m.9091A>G
ENST00000361899.2:c.565A>G
NC_012920.1(MT-ATP6):m.9091A>G
J01415.2:m.9091A>G
ENST00000361899.2:c.565A>G
NC_012920.1(MT-ATP6):m.9091A>G
Criteria Specification:ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Version: 1.0.0
Benign
Evidence Links 0
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