"Genome-Nilou Lab"[submitter] AND "ADA"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1173012	NM_000022.4(ADA):c.1078+99C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GBenign
Select item 1173013	NM_000022.4(ADA):c.1078+87A>G	ADA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 847778	NM_000022.4(ADA):c.1021_1022del (p.Arg341fs)	ADA (R341fs +2 more)	Microsatellite (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 809251	NM_000022.4(ADA):c.992A>C (p.Lys331Thr)	ADA (K196T +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 +1 more	GUncertain significance
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 1173014	NM_000022.4(ADA):c.975+68G>A	ADA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 860314	NM_000022.4(ADA):c.970del (p.Arg324fs)	ADA (R189fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 193544	NM_000022.4(ADA):c.956_960del (p.Glu319fs)	ADA (E184fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GPathogenic
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 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 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 338504	NM_000022.4(ADA):c.927G>A (p.Gln309=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GConflicting classifications of pathogenicity
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 968429	NM_000022.4(ADA):c.879_898del (p.Thr294fs)	ADA (T294fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1971	NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	ADA (S291L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency disease +2 more	GPathogenic/Likely pathogenic
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 536184	NM_000022.4(ADA):c.831G>T (p.Glu277Asp)	ADA (E277D +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	GUncertain significance
Select item 1964	NM_000022.4(ADA):c.821C>T (p.Pro274Leu)	ADA (P274L +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	GUncertain significance
Select item 1173015	NM_000022.4(ADA):c.780+36G>A	ADA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 536185	NM_000022.4(ADA):c.758G>A (p.Arg253Gln)	ADA (R253Q +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 +1 more	GUncertain significance
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 555264	NM_000022.4(ADA):c.716G>A (p.Gly239Asp)	ADA (G239D +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/Likely pathogenic
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 839704	NM_000022.4(ADA):c.705del (p.Leu236fs)	ADA (L101fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 228244	NM_000022.4(ADA):c.704G>A (p.Arg235Gln)	ADA (R235Q +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/Likely pathogenic
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 960034	NM_000022.4(ADA):c.690dup (p.Leu231fs)	ADA (L96fs +2 more)	Duplication (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic/Likely pathogenic
Select item 959920	NM_000022.4(ADA):c.645_648dup (p.Glu217fs)	ADA (E82fs +1 more)	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
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 1967	NM_000022.4(ADA):c.643G>A (p.Ala215Thr)	ADA (A215T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 536191	NM_000022.4(ADA):c.642C>T (p.His214=)	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	GConflicting classifications of pathogenicity
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 1173016	NM_000022.4(ADA):c.607-48C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +2 more	GBenign
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 1076251	NM_000022.4(ADA):c.577dup (p.Leu193fs)	ADA (L193fs +1 more)	Duplication (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic/Likely pathogenic
Select item 254716	NM_000022.4(ADA):c.534A>G (p.Val178=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +2 more	GBenign
Select item 280626	NM_000022.4(ADA):c.532dup (p.Val178fs)	ADA (V178fs +1 more)	Duplication (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GPathogenic
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 68265	NM_000022.4(ADA):c.529G>A (p.Val177Met)	ADA (V177M +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	GPathogenic/Likely pathogenic
Select item 373095	NM_000022.4(ADA):c.508A>G (p.Lys170Glu)	ADA (K170E +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 +2 more	GUncertain significance
Select item 265025	NM_000022.4(ADA):c.478+1G>A	ADA	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic
Select item 1984	NM_000022.4(ADA):c.467G>A (p.Arg156His)	ADA (R156H)	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 +1 more	GPathogenic/Likely pathogenic
Select item 1970	NM_000022.4(ADA):c.466C>T (p.Arg156Cys)	ADA (R156C)	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 +2 more	GPathogenic/Likely pathogenic
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 254715	NM_000022.4(ADA):c.445C>A (p.Arg149=)	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 +1 more	GConflicting classifications of pathogenicity
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 552928	NM_000022.4(ADA):c.424C>T (p.Arg142Ter)	ADA (R142*)	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 +1 more	GPathogenic
Select item 1069449	NM_000022.4(ADA):c.421G>T (p.Glu141Ter)	ADA (E141*)	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	GPathogenic
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 35653	NM_000022.4(ADA):c.390G>A (p.Val130=)	ADA	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign
Select item 68260	NM_000022.4(ADA):c.385G>A (p.Val129Met)	ADA (V129M)	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/Likely pathogenic
Select item 767073	NM_000022.4(ADA):c.375C>G (p.Thr125=)	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	GConflicting classifications of pathogenicity
Select item 1074979	NM_000022.4(ADA):c.366_367del (p.Asp123fs)	ADA (D123fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 624610	NM_000022.4(ADA):c.367del (p.Asp123fs)	ADA (D123fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1965	NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	ADA (L107P +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 +2 more	GPathogenic/Likely pathogenic
Select item 1956	NM_000022.4(ADA):c.302G>A (p.Arg101Gln)	ADA (R101Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 1955	NM_000022.4(ADA):c.301C>T (p.Arg101Trp)	ADA (R101W)	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/Likely pathogenic
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 1962	NM_000022.4(ADA):c.226C>T (p.Arg76Trp)	ADA (R76W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 338510	NM_000022.4(ADA):c.162G>A (p.Lys54=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 1188894	NM_000022.4(ADA):c.95+165A>G	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 555196	NM_000022.4(ADA):c.95+1G>A	ADA, LOC107303343	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 +1 more	GPathogenic
Select item 570007	NM_000022.4(ADA):c.61T>G (p.Ser21Ala)	ADA, LOC107303343 (S21A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 68267	NM_000022.4(ADA):c.58G>A (p.Gly20Arg)	LOC107303343, ADA (G20R)	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 +1 more	GPathogenic/Likely pathogenic
Select item 68263	NM_000022.4(ADA):c.43C>G (p.His15Asp)	ADA, LOC107303343 (H15D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 402340	NM_000022.4(ADA):c.36G>A (p.Val12=)	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 +2 more	GBenign
Select item 1070322	NM_000022.4(ADA):c.33+1G>A	ADA, LOC107303343	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
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
Select item 707923	NM_000022.4(ADA):c.21C>T (p.Phe7=)	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	GConflicting classifications of pathogenicity
Select item 377441	NM_000022.4(ADA):c.7C>T (p.Gln3Ter)	ADA, LOC107303343 (Q3*)	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 +1 more	GPathogenic

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Items: 74