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Results: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:33954894-33954906
GRCh38:
Chr19:33463988-33464000
PEPDProlidase deficiencyPathogenic
(Jul 30, 2010)
no assertion criteria provided
2.
GRCh37:
Chr19:33878906
GRCh38:
Chr19:33388000
PEPDProlidase deficiencyPathogenic
(Jul 30, 2010)
no assertion criteria provided