C1863239[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1961	NM_000022.4(ADA):c.890C>A (p.Pro297Gln)	ADA (P297Q +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 +2 more	GConflicting classifications of pathogenicity
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 1980	NM_000022.4(ADA):c.698C>T (p.Thr233Ile)	ADA (T233I +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 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 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 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 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