Related gene-specific medical variations for Gene (Select 146206) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690559	NM_001013838.3(CARMIL2):c.1753_1754del (p.Gln585fs)	CARMIL2 (Q549fs +1 more)	Deletion (frameshift variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GLikely pathogenic
Select item 2671920	NM_001013838.3(CARMIL2):c.1681C>T (p.Arg561Trp)	CARMIL2 (R525W +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 2439755	NM_001013838.3(CARMIL2):c.3444TGG[1] (p.Gly1150del)	CARMIL2 (G1114del +1 more)	Microsatellite (inframe_deletion)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 2439754	NM_001013838.3(CARMIL2):c.323C>G (p.Ala108Gly)	CARMIL2 (A108G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 1147230	NM_001013838.3(CARMIL2):c.4305C>T (p.Pro1435=)	ACD, CARMIL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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