"Illumina Laboratory Services, Illumina"[submitter] AND "LOC107303343" - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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