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Items: 11

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:99217212
GRCh38:
Chr2:98600749
COA5not specifiedUncertain significance
(Jul 8, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr2:99220597
GRCh38:
Chr2:98604134
COA5Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3Pathogenic
(Apr 8, 2011)
no assertion criteria provided
3.
GRCh37:
Chr2:95327499-111370025
See casesPathogenicno assertion criteria provided
4.
GRCh37:
Chr2:95529039-108518266
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
5.
GRCh37:
Chr2:95691600-100587394
See casesPathogenicno assertion criteria provided
6.
GRCh37:
Chr2:95344257-111359986
GRCh38:
Chr2:94678532-110602409
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
7.
GRCh37:
Chr2:99028236-102253369
GRCh38:
Chr2:98411773-101636907
See casesLikely pathogenic
(Oct 7, 2011)
no assertion criteria provided
8.
GRCh37:
Chr2:96003206-99689416
GRCh38:
Chr2:95337458-99072953
See casesUncertain significance
(Dec 16, 2011)
no assertion criteria provided
9.
GRCh37:
Chr2:98288985-110968895
GRCh38:
Chr2:97672522-110211318
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr2:95618109-103868854
GRCh38:
Chr2:94817406-103252396
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr2:91617683-102951316
GRCh38:
Chr2:91443218-102334856
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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