"3billion"[submitter] AND "CARMIL2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705623	NM_001013838.3(CARMIL2):c.473T>G (p.Phe158Cys)	CARMIL2 (F158C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 1333422	NM_001013838.3(CARMIL2):c.2313+1G>A	CARMIL2	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GLikely pathogenic