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Links from MedGen

Items: 44

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:17925164
GRCh38:
Chr17:18021850
ATPAF2V171LMitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jun 30, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr17:17924456
GRCh38:
Chr17:18021142
ATPAF2R238HMitochondrial complex V (ATP synthase) deficiency, nuclear type 1, not providedUncertain significance
(Aug 27, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr17:17927961
GRCh38:
Chr17:18024647
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jul 19, 2019)
criteria provided, single submitter
4.
GRCh37:
Chr17:17942230
GRCh38:
Chr17:18038916
ATPAF2I33fsMitochondrial complex V (ATP synthase) deficiency, nuclear type 1Likely pathogenic
(Sep 27, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr17:17921726
GRCh38:
Chr17:18018412
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr17:17921725
GRCh38:
Chr17:18018411
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr17:17921613
GRCh38:
Chr17:18018299
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr17:17942434
GRCh38:
Chr17:18039120
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr17:17942417
GRCh38:
Chr17:18039103
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr17:17942412
GRCh38:
Chr17:18039098
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr17:17921378
GRCh38:
Chr17:18018064
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr17:17921337
GRCh38:
Chr17:18018023
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr17:17942215
GRCh38:
Chr17:18038901
ATPAF2R38LMitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr17:17929622
GRCh38:
Chr17:18026308
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr17:17925110
GRCh38:
Chr17:18021796
ATPAF2R189GMitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr17:17921837
GRCh38:
Chr17:18018523
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Feb 16, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr17:17921809
GRCh38:
Chr17:18018495
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr17:17921755
GRCh38:
Chr17:18018441
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr17:17929643
GRCh38:
Chr17:18026329
ATPAF2D138NMitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jun 15, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr17:17942320
GRCh38:
Chr17:18039006
ATPAF2R3KMitochondrial complex V (ATP synthase) deficiency, nuclear type 1, not providedUncertain significance
(Jul 16, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:17942194
GRCh38:
Chr17:18038880
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, not providedConflicting interpretations of pathogenicity
(Nov 25, 2022)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr17:17942474
GRCh38:
Chr17:18039160
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, not providedBenign/Likely benign
(Aug 6, 2018)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr17:17942434
GRCh38:
Chr17:18039120
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Likely benign
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr17:17942328
GRCh38:
Chr17:18039014
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr17:17931620
GRCh38:
Chr17:18028306
ATPAF2E84KMitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr17:17924535
GRCh38:
Chr17:18021221
ATPAF2A212SMitochondrial complex V (ATP synthase) deficiency, nuclear type 1, not providedConflicting interpretations of pathogenicity
(Aug 3, 2022)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr17:17921733
GRCh38:
Chr17:18018419
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Benign
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr17:17921731
GRCh38:
Chr17:18018417
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Apr 1, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:17921698
GRCh38:
Chr17:18018384
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, not providedBenign
(Jun 19, 2018)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:17921669
GRCh38:
Chr17:18018355
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr17:17921526
GRCh38:
Chr17:18018212
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr17:17921485
GRCh38:
Chr17:18018171
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr17:17921407
GRCh38:
Chr17:18018093
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Benign
(Jan 12, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr17:17929666
GRCh38:
Chr17:18026352
ATPAF2A130Enot provided, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:17921931
GRCh38:
Chr17:18018617
ATPAF2A268TMitochondrial complex V (ATP synthase) deficiency, nuclear type 1, not providedUncertain significance
(Jun 28, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr17:17921948
GRCh38:
Chr17:18018634
ATPAF2L262Pnot provided, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Conflicting interpretations of pathogenicity
(Feb 26, 2021)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr17:17942288
GRCh38:
Chr17:18038974
ATPAF2R14Gnot provided, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Uncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:17921843
GRCh38:
Chr17:18018529
ATPAF2not specified, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr17:17924447
GRCh38:
Chr17:18021133
ATPAF2E241Gnot provided, not specified, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Benign/Likely benign
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:17942293
GRCh38:
Chr17:18038979
ATPAF2G12Enot specified, not provided, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Benign
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:17921995
GRCh38:
Chr17:18018681
ATPAF2not specified, not provided, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr17:17925164
GRCh38:
Chr17:18021850
ATPAF2V171Mnot specified, not provided, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:17929709
GRCh38:
Chr17:18026395
ATPAF2not specified, not provided, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Conflicting interpretations of pathogenicity
(Oct 20, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr17:17931590
GRCh38:
Chr17:18028276
ATPAF2W94RMitochondrial complex V (ATP synthase) deficiency, nuclear type 1Pathogenic
(Feb 1, 2004)
no assertion criteria provided
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