"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 468484	NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)	DCLRE1C (S515fs +2 more)	Duplication (frameshift variant +2 more)	Histiocytic medullary reticulosis +3 more	GConflicting classifications of pathogenicity
Select item 536365	NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys)	DCLRE1C (Y578C +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 659975	NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser)	DCLRE1C (I570S +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 625928	NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu)	DCLRE1C (P519L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 574359	NM_001033855.3(DCLRE1C):c.678+5G>A	DCLRE1C	Single nucleotide variant (intron variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 35998	NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)	DCLRE1C (G153R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database

ClinVar