C4748304[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1063548	NM_001013838.3(CARMIL2):c.226G>A (p.Ala76Thr)	CARMIL2 (A76T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GUncertain significance
Select item 1613154	NM_001013838.3(CARMIL2):c.1509+14C>A	CARMIL2	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GBenign/Likely benign
Select item 1581961	NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu)	CARMIL2 (D482E +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1164990	NM_001013838.3(CARMIL2):c.3221+20T>C	CARMIL2	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GBenign/Likely benign
Select item 1539447	NM_001013838.3(CARMIL2):c.3894G>A (p.Ala1298=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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