"PreventionGenetics, part of Exact Sciences"[submitter] AND "ADA"[gene - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2635249	NM_000022.4(ADA):c.1059G>A (p.Met353Ile)	ADA (M218I +2 more)	Single nucleotide variant (missense variant +1 more)	ADA-related disorder	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 703230	NM_000022.4(ADA):c.937C>A (p.Arg313=)	ADA	Single nucleotide variant (synonymous variant +1 more)	ADA-related disorder +1 more	GLikely benign
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 747112	NM_000022.4(ADA):c.822G>A (p.Pro274=)	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/Likely benign
Select item 392264	NM_000022.4(ADA):c.780+7G>A	ADA	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
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 703693	NM_000022.4(ADA):c.660G>A (p.Ser220=)	ADA	Single nucleotide variant (synonymous variant +2 more)	ADA-related disorder +1 more	GLikely benign
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 767626	NM_000022.4(ADA):c.621C>T (p.Ser207=)	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	GLikely benign
Select item 254716	NM_000022.4(ADA):c.534A>G (p.Val178=)	ADA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
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 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 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 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)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +3 more	GBenign/Likely benign
Select item 797887	NM_000022.4(ADA):c.108C>T (p.Ile36=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	ADA-related disorder +1 more	GLikely benign
Select item 854068	NM_000022.4(ADA):c.33+3G>A	ADA, LOC107303343	Single nucleotide variant (intron variant)	ADA-related disorder +1 more	GConflicting classifications of pathogenicity