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Items: 20

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:21976781
GRCh38:
Chr16:21965460
UQCRC2, PDZD9not specifiedLikely benign
(Jan 22, 2018)
criteria provided, single submitter
2.
GRCh37:
Chr16:21979960
GRCh38:
Chr16:21968639
UQCRC2, PDZD9not specifiedLikely benign
(Dec 22, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr16:21987576
GRCh38:
Chr16:21976255
UQCRC2, PDZD9not specifiedLikely benign
(Mar 22, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr16:21982932-21982944
GRCh38:
Chr16:21971611-21971623
UQCRC2, PDZD9not providedPathogenic
(May 22, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr16:21973809
GRCh38:
Chr16:21962488
UQCRC2, PDZD9not providedLikely pathogenic
(May 22, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr16:21964723
GRCh38:
Chr16:21953402
UQCRC2not specifiedLikely benign
(Oct 28, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr16:21994393
GRCh38:
Chr16:21983072
UQCRC2, PDZD9not specifiedLikely benign
(Oct 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr16:21964710
GRCh38:
Chr16:21953389
UQCRC2not specifiedLikely benign
(May 1, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr16:21968649
GRCh38:
Chr16:21957328
UQCRC2not specifiedLikely benign
(Sep 27, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr16:21985208
GRCh38:
Chr16:21973887
UQCRC2, PDZD9not specifiedLikely benign
(Sep 13, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr16:21976796
GRCh38:
Chr16:21965475
UQCRC2, PDZD9not specified, not providedLikely benign
(Apr 18, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr16:21964713
GRCh38:
Chr16:21953392
UQCRC2not specifiedBenign
(Oct 3, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr16:21969903
GRCh38:
Chr16:21958582
UQCRC2, PDZD9not specifiedLikely benign
(May 3, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr16:21974112
GRCh38:
Chr16:21962791
UQCRC2, PDZD9not specifiedLikely benign
(May 11, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr16:21974134
GRCh38:
Chr16:21962813
UQCRC2, PDZD9not specified, not providedBenign
(Dec 22, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr16:21987481
GRCh38:
Chr16:21976160
UQCRC2, PDZD9not specified, not providedBenign
(Feb 22, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr16:21982936
GRCh38:
Chr16:21971615
UQCRC2, PDZD9not specified, not providedBenign
(Dec 10, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr16:21976762
GRCh38:
Chr16:21965441
UQCRC2, PDZD9not specified, not providedBenign
(Feb 12, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr16:21994411
GRCh38:
Chr16:21983090
UQCRC2, PDZD9not specified, not providedBenign
(Feb 9, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr16:21976761
GRCh38:
Chr16:21965440
UQCRC2, PDZD9Mitochondrial complex III deficiency, nuclear type 5Pathogenic
(Mar 1, 2013)
no assertion criteria provided
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