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Items: 2

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:100653006
GRCh38:
ChrX:101398018
GLA, RPL36A-HNRNPH2not providedPathogenic
(Apr 23, 2015)
criteria provided, single submitter
2.
GRCh37:
ChrX:100653006
GRCh38:
ChrX:101398018
GLA, RPL36A-HNRNPH2Fabry diseasePathogenic
(Jul 1, 1993)
no assertion criteria provided
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