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Items: 19

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:1801486
GRCh38:
Chr5:1801372
NDUFS6, MRPL36not specifiedLikely benign
(Sep 28, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr5:1801520
GRCh38:
Chr5:1801406
NDUFS6, MRPL36Mitochondrial complex I deficiency, not specifiedConflicting interpretations of pathogenicity
(Nov 7, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr5:1801582
GRCh38:
Chr5:1801468
NDUFS6not specifiedLikely benign
(Jan 5, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr5:1801627
GRCh38:
Chr5:1801513
NDUFS6not specifiedLikely benign
(Dec 29, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr5:1802433
GRCh38:
Chr5:1802319
NDUFS6not specifiedUncertain significance
(Feb 20, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr5:1814495
GRCh38:
Chr5:1814381
NDUFS6not specifiedUncertain significance
(Mar 18, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr5:1814513
GRCh38:
Chr5:1814399
NDUFS6not providedLikely pathogenic
(Jun 3, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr5:1814523
GRCh38:
Chr5:1814409
NDUFS6not specifiedUncertain significance
(Jul 1, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr5:1814528
GRCh38:
Chr5:1814414
NDUFS6not specifiedUncertain significance
(Jul 28, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr5:1814571
GRCh38:
Chr5:1814457
NDUFS6not providedLikely pathogenic
(Sep 10, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr5:1816045
GRCh38:
Chr5:1815931
NDUFS6Mitochondrial complex I deficiency, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr5:1460725-1944457
NDUFS6, IRX4, MRPL36, LPCAT1See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr5:22149-13362684
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr5:22149-34041255
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr5:79146-15509107
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr5:54954-5603514
GRCh38:
Chr5:54839-5603401
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr5:37692-2913319
GRCh38:
Chr5:37694-2913205
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr5:37692-2747022
GRCh38:
Chr5:37694-2746908
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
19.
GRCh37:
Chr5:22149-3557056
GRCh38:
Chr5:22149-3556942
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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