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Items: 6

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:57607260
GRCh38:
Chr20:59032205
ATP5E, SLMO2-ATP5Enot specifiedGMAF:0.00100(A)
GO-ESP:0.00331(A)
Benign
(Apr 14, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr20:57607296
GRCh38:
Chr20:59032241
ATP5E, SLMO2-ATP5Enot specifiedUncertain significance
(Jul 16, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr20:57607313
GRCh38:
Chr20:59032258
ATP5E, SLMO2-ATP5Enot specifiedGO-ESP:0.00009(C)Benign
(Apr 23, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr20:57607331
GRCh38:
Chr20:59032276
ATP5E, SLMO2-ATP5Enot specifiedGMAF:0.00920(A)
GO-ESP:0.01044(A)
Benign
(Mar 28, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr20:57607352
GRCh38:
Chr20:59032297
ATP5E, SLMO2-ATP5Enot specifiedGO-ESP:0.00208(A)Benign
(Jan 31, 2013)
criteria provided, single submitter
6.
GRCh37:
Chr20:55804471-62904442
GRCh38:
Chr20:57229415-64273089
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
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