ClinVar for MedGen (Select 42403) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683805	NM_025265.4(TSEN2):c.1100-5T>A	TSEN2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 548648	NM_003647.3(DGKE):c.888+40A>G	DGKE	Single nucleotide variant (intron variant)	Hemolytic-uremic syndrome	GPathogenic