"ClinGen Severe Combined Immunodeficiency Variant Curation Expert Pane - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 837417	NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala)	IL2RG (T369A)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
Select item 968664	NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)	IL2RG (A359V)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
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 418656	NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)	IL2RG (R328*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 1166432	NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn)	IL2RG (S326N)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign FDA Recognized database
Select item 2138599	NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)	IL2RG (Q322*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 763173	NM_000206.3(IL2RG):c.963G>A (p.Leu321=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign FDA Recognized database
Select item 1559662	NM_000206.3(IL2RG):c.924+9G>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
Select item 280035	NM_000206.3(IL2RG):c.924+1G>A	IL2RG	Single nucleotide variant (splice donor variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 962267	NM_000206.3(IL2RG):c.924G>A (p.Ser308=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely pathogenic FDA Recognized database
Select item 532191	NM_000206.3(IL2RG):c.821T>C (p.Ile274Thr)	IL2RG (I274T)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
Select item 1507904	NM_000206.3(IL2RG):c.739G>A (p.Gly247Arg)	IL2RG (G247R)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
Select item 1411137	NM_000206.3(IL2RG):c.738G>A (p.Trp246Ter)	IL2RG (W246*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 463384	NM_000206.3(IL2RG):c.720G>A (p.Trp240Ter)	IL2RG (W240*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 36388	NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter)	IL2RG (W237*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 503682	NM_000206.3(IL2RG):c.703C>T (p.Gln235Ter)	IL2RG (Q235*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
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 225196	NM_000206.3(IL2RG):c.677G>A (p.Arg226His)	IL2RG	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 1172577	NM_000206.3(IL2RG):c.655T>C (p.Tyr219His)	IL2RG (Y219H)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
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 418256	NM_000206.3(IL2RG):c.460C>T (p.Pro154Ser)	IL2RG (P154S)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
Select item 3066454	NM_000206.3(IL2RG):c.455-2A>T	IL2RG	Single nucleotide variant (splice acceptor variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 947759	NM_000206.3(IL2RG):c.455-2A>C	IL2RG	Single nucleotide variant (splice acceptor variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 532192	NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp)	IL2RG (R136W)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign FDA Recognized database
Select item 795305	NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr)	IL2RG (I111T)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign FDA Recognized database
Select item 1371376	NM_000206.3(IL2RG):c.328G>T (p.Glu110Ter)	IL2RG (E110*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 368619	NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys)	IL2RG (E109K)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GBenign FDA Recognized database
Select item 965763	NM_000206.3(IL2RG):c.311A>T (p.His104Leu)	IL2RG (H104L)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign FDA Recognized database
Select item 804024	NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu)	IL2RG (K98E)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
Select item 488696	NM_000206.3(IL2RG):c.281C>A (p.Ser94Ter)	IL2RG (S94*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
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 1369885	NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter)	IL2RG (C72*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GLikely pathogenic FDA Recognized database
Select item 941327	NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter)	IL2RG (Y69*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
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 10019	NM_000206.3(IL2RG):c.186T>A (p.Cys62Ter)	IL2RG (C62*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 1066149	NM_000206.3(IL2RG):c.184T>C (p.Cys62Arg)	IL2RG (C62R)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 636917	NM_000206.3(IL2RG):c.184T>A (p.Cys62Ser)	IL2RG (C62S)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely pathogenic FDA Recognized database
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 FDA Recognized database
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 FDA Recognized database
Select item 1068066	NM_000206.3(IL2RG):c.116-1G>A	IL2RG, LOC126863274	Single nucleotide variant (splice acceptor variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 1066837	NM_000206.3(IL2RG):c.116-2A>G	IL2RG, LOC126863274	Single nucleotide variant (splice acceptor variant)	X-linked severe combined immunodeficiency	GLikely pathogenic FDA Recognized database
Select item 1368945	NM_000206.3(IL2RG):c.115+2T>C	IL2RG, LOC126863274	Single nucleotide variant (splice donor variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 1323112	NM_000206.3(IL2RG):c.115+1G>T	IL2RG, LOC126863274	Single nucleotide variant (splice donor variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 463378	NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter)	IL2RG, LOC126863274 (E34*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GLikely pathogenic FDA Recognized database
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

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Items: 48