"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687839	NM_001033855.3(DCLRE1C):c.1679dup (p.Leu560fs)	DCLRE1C (L440fs +2 more)	Duplication (frameshift variant +1 more)	not specified	GLikely pathogenic
Select item 3220925	NM_001033855.3(DCLRE1C):c.1307delinsAGGATGCT (p.Cys436Ter)	DCLRE1C (C316* +2 more)	Indel (nonsense +1 more)	Athabaskan severe combined immunodeficiency	GLikely pathogenic
Select item 1071047	NM_001033855.3(DCLRE1C):c.1299_1306dup (p.Cys436Ter)	DCLRE1C (C316* +2 more)	Duplication (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3065152	NM_001033855.3(DCLRE1C):c.1299A>G (p.Pro433=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3065246	NM_001033855.3(DCLRE1C):c.1087del (p.Gln363fs)	DCLRE1C (Q243fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic
Select item 3061743	NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa)	DCLRE1C (S242* +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3064768	NM_001033855.3(DCLRE1C):c.1061+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic
Select item 35999	NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)	DCLRE1C (P171R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 191000	NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg)	DCLRE1C (G135R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 3068164	NM_001033855.3(DCLRE1C):c.350C>A (p.Pro117Gln)	DCLRE1C (P117Q)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3233381	NM_001033855.3(DCLRE1C):c.99C>G (p.His33Gln)	DCLRE1C (H33Q)	Single nucleotide variant (missense variant +2 more)	Athabaskan severe combined immunodeficiency	GUncertain significance