ClinVar for MedGen (Select 1682943) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584898	NM_000878.5(IL2RB):c.1021G>A (p.Asp341Asn)	IL2RB (D341N)	Single nucleotide variant (missense variant)	Immunodeficiency 63 with lymphoproliferation and autoimmunity	GUncertain significance
Select item 2432845	NM_000878.5(IL2RB):c.203+1G>A	IL2RB	Single nucleotide variant (splice donor variant)	Immunodeficiency 63 with lymphoproliferation and autoimmunity	GUncertain significance
Select item 1170851	NM_000878.5(IL2RB):c.750C>T (p.Gly250=)	IL2RB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1168192	NM_000878.5(IL2RB):c.389-20C>G	IL2RB	Single nucleotide variant (intron variant)	Immunodeficiency 63 with lymphoproliferation and autoimmunity +2 more	GBenign
Select item 1168139	NM_000878.5(IL2RB):c.389-11G>C	IL2RB	Single nucleotide variant (intron variant)	Immunodeficiency 63 with lymphoproliferation and autoimmunity +2 more	GBenign
Select item 1165221	NM_000878.5(IL2RB):c.538-8C>T	IL2RB	Single nucleotide variant (intron variant)	IL2RB-related condition +2 more	GBenign
Select item 1030917	NM_000878.5(IL2RB):c.194C>T (p.Pro65Leu)	IL2RB (P65L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 635832	NM_000878.5(IL2RB):c.656CCTGGAGCC[1] (p.Pro222_Ser224del)	IL2RB	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 635831	IL2RB, GLN96TER	IL2RB	Single nucleotide variant	Immunodeficiency 63 with lymphoproliferation and autoimmunity	GPathogenic
Select item 635830	NM_000878.5(IL2RB):c.119C>T (p.Ser40Leu)	IL2RB	Single nucleotide variant (missense variant)	Immunodeficiency 63 with lymphoproliferation and autoimmunity	GPathogenic
Select item 635829	NM_000878.5(IL2RB):c.230T>C (p.Leu77Pro)	IL2RB	Single nucleotide variant (missense variant)	Immunodeficiency 63 with lymphoproliferation and autoimmunity	GPathogenic