C4748304[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 565285	NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)	CARMIL2 (R50T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GLikely pathogenic
Select item 565278	NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg)	CARMIL2 (L372R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GLikely pathogenic
Select item 565281	NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)	CARMIL2 (L639H +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 565280	NM_001013838.3(CARMIL2):c.2557C>T (p.Gln853Ter)	CARMIL2 (Q853* +1 more)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency due to CARMIL2 deficiency	GPathogenic

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