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Items: 33

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:5368905
GRCh38:
Chr6:5368672
FARS2not specifiedBenign
(May 19, 2014)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr6:5368973
GRCh38:
Chr6:5368740
FARS2not specifiedBenign
(Aug 21, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr6:5368986
GRCh38:
Chr6:5368753
FARS2not specifiedBenign
(Sep 1, 2015)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr6:5369127
GRCh38:
Chr6:5368894
FARS2not specifiedLikely benign
(Apr 15, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr6:5369142
GRCh38:
Chr6:5368909
FARS2not specifiedBenign
(Nov 26, 2013)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr6:5369234
GRCh38:
Chr6:5369001
FARS2Mitochondrial encephalomyopathy, Combined oxidative phosphorylation deficiency 14, not provided,
Global developmental delay, Mitochondrial encephalomyopathy
Pathogenic/Likely pathogenic
(Jun 22, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr6:5369265
GRCh38:
Chr6:5369032
FARS2not specifiedLikely benign
(Jul 8, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr6:5369271
GRCh38:
Chr6:5369038
FARS2not specifiedBenign
(Sep 1, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr6:5369299
GRCh38:
Chr6:5369066
FARS2not specifiedLikely benign
(Jun 2, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr6:5369309
GRCh38:
Chr6:5369076
FARS2not specifiedUncertain significance
(Oct 19, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr6:5369322
GRCh38:
Chr6:5369089
FARS2not specifiedBenign
(Jul 21, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr6:5369353
GRCh38:
Chr6:5369120
FARS2not providedLikely pathogenic
(Aug 26, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr6:5369409
GRCh38:
Chr6:5369176
FARS2not specifiedBenign
(Apr 16, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr6:5404808
GRCh38:
Chr6:5404575
FARS2not providedLikely pathogenic
(Sep 16, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr6:5404829
GRCh38:
Chr6:5404596
FARS2not providedLikely pathogenic
(Apr 24, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr6:5404899
GRCh38:
Chr6:5404666
FARS2not specifiedBenign
(Apr 2, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr6:5431340
GRCh38:
Chr6:5431107
FARS2not specifiedBenign
(Oct 16, 2013)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr6:5431400
GRCh38:
Chr6:5431167
FARS2not specifiedUncertain significance
(Oct 9, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr6:5545453
GRCh38:
Chr6:5545220
FARS2not specifiedLikely benign
(Apr 15, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr6:5545479
GRCh38:
Chr6:5545246
FARS2not providedLikely pathogenic
(Jul 7, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr6:5545497
GRCh38:
Chr6:5545264
FARS2not specifiedUncertain significance
(Oct 19, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr6:5545567
GRCh38:
Chr6:5545334
FARS2not specifiedLikely benign
(Oct 6, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr6:5613418
GRCh38:
Chr6:5613185
FARS2not specifiedUncertain significance
(Jun 13, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr6:5771526
GRCh38:
Chr6:5771293
FARS2not providedLikely pathogenic
(Sep 8, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr6:5771561
GRCh38:
Chr6:5771328
FARS2not providedLikely pathogenic
(Oct 19, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr6:5771562
GRCh38:
Chr6:5771329
FARS2not providedLikely pathogenic
(Sep 16, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr6:5771574
GRCh38:
Chr6:5771341
FARS2not providedLikely pathogenic
(Apr 14, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr6:5771650
GRCh38:
Chr6:5771417
FARS2not specifiedLikely benign
(Jul 7, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr6:168775-24023234
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr6:204009-11608587
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr6:204009-6447311
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr6:5354402-17950079
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr6:4427324-8391373
GRCh38:
Chr6:4427090-8391140
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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