C1863236[trait identifier] AND "ClinGen Severe Combined Immunodeficien - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2088001	NM_000022.4(ADA):c.1078+2T>C	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 558340	NM_000022.4(ADA):c.1078+2T>A	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 1959	NM_000022.4(ADA):c.986C>T (p.Ala329Val)	ADA (A329V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 1678200	NM_000022.4(ADA):c.984T>A (p.Asn328Lys)	ADA (N193K +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 2138345	NM_000022.4(ADA):c.976-1G>C	ADA	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 984454	NM_000022.4(ADA):c.975+1G>A	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 897015	NM_000022.4(ADA):c.941A>G (p.Asp314Gly)	ADA (D179G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 2199784	NM_000022.4(ADA):c.940G>T (p.Asp314Tyr)	ADA (D290Y +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 1038658	NM_000022.4(ADA):c.938G>A (p.Arg313Gln)	ADA (R178Q +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 1195941	NM_000022.4(ADA):c.937C>T (p.Arg313Trp)	ADA (R178W +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 1507601	NM_000022.4(ADA):c.935A>G (p.Lys312Arg)	ADA (K177R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 1357028	NM_000022.4(ADA):c.934A>C (p.Lys312Gln)	ADA (K177Q +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 950101	NM_000022.4(ADA):c.932C>T (p.Thr311Ile)	ADA (T287I +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 1626393	NM_000022.4(ADA):c.930G>A (p.Met310Ile)	ADA (M175I +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 2009484	NM_000022.4(ADA):c.902A>T (p.Lys301Met)	ADA (K166M +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 845973	NM_000022.4(ADA):c.902A>G (p.Lys301Arg)	ADA (K166R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 897016	NM_000022.4(ADA):c.899T>G (p.Phe300Cys)	ADA (F276C +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 1505857	NM_000022.4(ADA):c.890C>T (p.Pro297Leu)	ADA (P273L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 402341	NM_000022.4(ADA):c.845G>A (p.Arg282Gln)	ADA (R282Q +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 1335461	NM_000022.4(ADA):c.763G>T (p.Glu255Ter)	ADA (E120* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 618516	NM_000022.4(ADA):c.757C>T (p.Arg253Trp)	ADA (R253W +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 549915	NM_000022.4(ADA):c.736C>T (p.Gln246Ter)	ADA (Q246* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 338506	NM_000022.4(ADA):c.715G>A (p.Gly239Ser)	ADA (G239S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 468281	NM_000022.4(ADA):c.703C>T (p.Arg235Trp)	ADA (R235W +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 1968	NM_000022.4(ADA):c.646G>A (p.Gly216Arg)	ADA (G216R +1 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 1957	NM_000022.4(ADA):c.632G>A (p.Arg211His)	ADA (R211H +1 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 1966	NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	ADA (R211C +1 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 967164	NM_000022.4(ADA):c.622G>A (p.Gly208Ser)	ADA (G208S +1 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 841399	NM_000022.4(ADA):c.618G>T (p.Lys206Asn)	ADA (K71N +1 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 835256	NM_000022.4(ADA):c.608A>C (p.Glu203Ala)	ADA (E203A +1 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 1901446	NM_000022.4(ADA):c.606+1G>T	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 1406981	NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)	ADA (Y201* +1 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 555182	NM_000022.4(ADA):c.603C>G (p.Tyr201Ter)	ADA (Y201* +1 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 2050660	NM_000022.4(ADA):c.596A>G (p.Gln199Arg)	ADA (Q199R +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 338509	NM_000022.4(ADA):c.591T>A (p.His197Gln)	ADA (H197Q +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign FDA Recognized database
Select item 662119	NM_000022.4(ADA):c.578T>A (p.Leu193His)	ADA (L58H +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 382795	NM_000022.4(ADA):c.575G>A (p.Ser192Asn)	ADA (S192N +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 1015428	NM_000022.4(ADA):c.574A>G (p.Ser192Gly)	ADA (S192G +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 960745	NM_000022.4(ADA):c.572G>A (p.Ser191Asn)	ADA (S56N +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 2147602	NM_000022.4(ADA):c.569G>A (p.Gly190Glu)	ADA (G55E +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 1696220	NM_000022.4(ADA):c.539T>C (p.Ile180Thr)	ADA (I180T +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 505549	NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)	ADA	Deletion (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 983781	NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)	ADA (Y172* +1 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 983782	NM_000022.4(ADA):c.511A>T (p.Lys171Ter)	ADA (K171* +1 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 1979	NM_000022.4(ADA):c.454C>A (p.Leu152Met)	ADA (L152M)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 1963	NM_000022.4(ADA):c.446G>A (p.Arg149Gln)	ADA (R149Q)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 68264	NM_000022.4(ADA):c.445C>T (p.Arg149Trp)	ADA (R149W)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 68262	NM_000022.4(ADA):c.425G>A (p.Arg142Gln)	ADA (R142Q)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GBenign FDA Recognized database
Select item 536186	NM_000022.4(ADA):c.402C>T (p.Gly134=)	ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign FDA Recognized database
Select item 550821	NM_000022.4(ADA):c.396dup (p.Val133fs)	ADA (V133fs)	Duplication (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 1473380	NM_000022.4(ADA):c.363-2A>G	ADA	Single nucleotide variant (intron variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 1954	NM_000022.4(ADA):c.239A>G (p.Lys80Arg)	ADA (K80R)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GBenign FDA Recognized database
Select item 1969	NM_000022.4(ADA):c.219-2A>G	ADA	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 1075328	NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)	ADA, LOC107303343 (Y67*)	Single nucleotide variant (nonsense +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic FDA Recognized database
Select item 719476	NM_000022.4(ADA):c.192G>A (p.Lys64=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign FDA Recognized database
Select item 1973	NM_000022.2(ADA):c.22G>A (p.Asp8Asn)	ADA, LOC107303343 (D8N)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GBenign FDA Recognized database

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Items: 56