"Illumina Laboratory Services, Illumina"[submitter] AND "ADA"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338500	NM_000022.4(ADA):c.*282C>T	ADA	Single nucleotide variant (3 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 338501	NM_000022.4(ADA):c.*174T>A	ADA	Single nucleotide variant (3 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 338502	NM_000022.4(ADA):c.*173G>C	ADA	Single nucleotide variant (3 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 895611	NM_000022.4(ADA):c.*162G>A	ADA	Single nucleotide variant (3 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 338503	NM_000022.4(ADA):c.*152C>T	ADA	Single nucleotide variant (3 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 895612	NM_000022.4(ADA):c.*4C>T	ADA	Single nucleotide variant (3 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
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 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
Select item 338505	NM_000022.4(ADA):c.834T>C (p.His278=)	ADA	Single nucleotide variant (synonymous 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 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 897017	NM_000022.4(ADA):c.688A>C (p.Ile230Leu)	ADA (I95L +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
Select item 338507	NM_000022.4(ADA):c.679-8C>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	GConflicting classifications of pathogenicity
Select item 897018	NM_000022.4(ADA):c.672A>G (p.Val224=)	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 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 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 338508	NM_000022.4(ADA):c.594C>T (p.Val198=)	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	GUncertain significance
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 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 897495	NM_000022.4(ADA):c.446G>T (p.Arg149Leu)	ADA (R149L)	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
Select item 254715	NM_000022.4(ADA):c.445C>A (p.Arg149=)	ADA	Single nucleotide variant (synonymous variant +2 more)	not specified +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 35653	NM_000022.4(ADA):c.390G>A (p.Val130=)	ADA	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign
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 898651	NM_000022.4(ADA):c.282C>T (p.Gly94=)	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 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 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 338510	NM_000022.4(ADA):c.162G>A (p.Lys54=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 898652	NM_000022.4(ADA):c.145G>A (p.Val49Ile)	ADA, LOC107303343 (V49I)	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
Select item 898653	NM_000022.4(ADA):c.115C>G (p.Pro39Ala)	ADA, LOC107303343 (P39A)	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
Select item 468282	NM_000022.4(ADA):c.95+9A>G	ADA, LOC107303343	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 570007	NM_000022.4(ADA):c.61T>G (p.Ser21Ala)	ADA, LOC107303343 (S21A)	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	GUncertain significance
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 338511	NM_000022.4(ADA):c.-10C>G	ADA, LOC107303343	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 895674	NM_000022.4(ADA):c.-28G>C	ADA, LOC107303343	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 895675	NM_000022.4(ADA):c.-67C>T	ADA, LOC107303343	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 338512	NM_000022.3(ADA):c.-101G>A	LOC107303343, ADA	Single nucleotide variant	not provided +1 more	GBenign
Select item 897085	NM_000022.3(ADA):c.-123G>A	ADA, LOC107303343	Single nucleotide variant	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance

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Items: 40