"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418656	NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)	IL2RG (R328*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency +2 more	GPathogenic/Likely pathogenic
Select item 36389	NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter)	IL2RG	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1075157	NM_000206.3(IL2RG):c.758-2A>G	IL2RG	Single nucleotide variant (splice acceptor variant)	X-linked severe combined immunodeficiency	GPathogenic/Likely pathogenic
Select item 36388	NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter)	IL2RG (W237*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 503682	NM_000206.3(IL2RG):c.703C>T (p.Gln235Ter)	IL2RG (Q235*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 633274	NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg)	IL2RG (G232R)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
Select item 36387	NM_000206.3(IL2RG):c.662T>C (p.Phe221Ser)	IL2RG (F221S)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 419664	NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr)	IL2RG (C182Y)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely pathogenic FDA Recognized database
Select item 1301872	NM_000206.3(IL2RG):c.484C>G (p.Leu162Val)	IL2RG (L162V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 633276	NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter)	IL2RG (W155*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 36386	NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)	IL2RG (V152A)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic/Likely pathogenic
Select item 1516811	NM_000206.3(IL2RG):c.395T>A (p.Leu132His)	IL2RG (L132H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 981080	NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs)	IL2RG (K120fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 36385	NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)	IL2RG (Y105C)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic/Likely pathogenic
Select item 36384	NM_000206.3(IL2RG):c.270-1G>T	IL2RG	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 633275	NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter)	IL2RG (Q61*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 1677132	NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter)	IL2RG (E59*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 372386	NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter)	IL2RG, LOC126863274 (Q15*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database