"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708141	NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)	DCLRE1C (R263* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 1708142	NM_001033855.3(DCLRE1C):c.413G>C (p.Arg138Thr)	DCLRE1C (R138T +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic