ClinVar for MedGen (Select 1720670) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699362	NM_000206.3(IL2RG):c.75_77del (p.Thr26del)	IL2RG, LOC126863274 (T26del)	Deletion (inframe_deletion)	Combined immunodeficiency, X-linked	GUncertain significance
Select item 1675093	NM_000206.3(IL2RG):c.74del (p.Thr25fs)	IL2RG, LOC126863274 (T25fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency +1 more	GLikely pathogenic
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 1199323	NM_000206.3(IL2RG):c.1061A>G (p.His354Arg)	IL2RG (H354R)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign FDA Recognized database
Select item 1199322	NM_000206.3(IL2RG):c.318A>G (p.Leu106=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 1170712	NM_000206.3(IL2RG):c.857C>T (p.Thr286Met)	IL2RG (T286M)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency +1 more	GBenign/Likely benign
Select item 1028611	NM_000206.3(IL2RG):c.269+1G>T	IL2RG	Single nucleotide variant (splice donor variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 992514	NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys)	IL2RG (Y125C)	Single nucleotide variant (missense variant)	Combined immunodeficiency, X-linked +1 more	GLikely pathogenic
Select item 795771	NM_000206.3(IL2RG):c.201C>T (p.Val67=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency +1 more	GBenign/Likely benign
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 379561	NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys)	IL2RG (E68K)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 225195	NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys)	IL2RG	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 225194	NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp)	IL2RG	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 10027	NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)	IL2RG (R222C)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 10023	NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln)	IL2RG (L293Q)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic