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Items: 6

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:36217396
GRCh38:
Chr9:36217399
GNEInclusion body myopathy 2, Nonaka myopathyPathogenic
(Feb 20, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr9:36219937
GRCh38:
Chr9:36219940
GNEInclusion body myopathy 2, Nonaka myopathyGMAF:0.00020(G)Pathogenic
(Feb 20, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr9:36234102
GRCh38:
Chr9:36234105
GNESialuriaPathogenic
(Oct 18, 2012)
no assertion criteria provided
4.
GRCh37:
Chr9:36234103
GRCh38:
Chr9:36234106
GNESialuriaPathogenic
(Oct 18, 2012)
no assertion criteria provided
5.
GRCh37:
Chr9:36234111
GRCh38:
Chr9:36234114
GNESialuriaPathogenic
(Oct 18, 2012)
no assertion criteria provided
6.
GRCh37:
Chr9:36246117
GRCh38:
Chr9:36246120
GNEInclusion body myopathy 2GMAF:0.00040(A)Pathogenic
(Apr 10, 2014)
criteria provided, single submitter
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