"Counsyl"[submitter] AND "ADA"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556404	NM_000022.4(ADA):c.1091del (p.Leu363_Ter364insTer)	ADA	Deletion (frameshift 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 558340	NM_000022.4(ADA):c.1078+2T>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	GLikely pathogenic FDA Recognized database
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 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 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 551944	NM_000022.4(ADA):c.845+1G>C	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/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 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 550675	NM_000022.4(ADA):c.790del (p.Trp264fs)	ADA (W240fs +2 more)	Deletion (frameshift variant)	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 558086	NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs)	ADA (C127fs +2 more)	Insertion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic/Likely pathogenic
Select item 558094	NM_000022.4(ADA):c.781-4_781-3insTGGAAGAG	ADA	Insertion (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
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 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 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 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 555182	NM_000022.4(ADA):c.603C>G (p.Tyr201Ter)	ADA (Y201* +1 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 556213	NM_000022.4(ADA):c.556G>A (p.Glu186Lys)	ADA (E186K +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	GConflicting classifications of pathogenicity
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 551778	NM_000022.4(ADA):c.479-3_479-2del	ADA	Microsatellite (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 553057	NM_000022.4(ADA):c.478+6T>A	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 555823	NM_000022.4(ADA):c.467G>T (p.Arg156Leu)	ADA (R156L)	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	GConflicting classifications of pathogenicity
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 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 68264	NM_000022.4(ADA):c.445C>T (p.Arg149Trp)	ADA (R149W)	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 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 550807	NM_000022.4(ADA):c.383_404dup (p.Leu137fs)	ADA (L137fs)	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/Likely pathogenic
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 554749	NM_000022.4(ADA):c.350G>A (p.Trp117Ter)	ADA (W117* +1 more)	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/Likely pathogenic
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 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 558726	NM_000022.4(ADA):c.219-1G>A	ADA	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1969	NM_000022.4(ADA):c.219-2A>G	ADA	Single nucleotide variant (splice acceptor variant)	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 557545	NM_000022.4(ADA):c.218+2dup	LOC107303343, ADA	Duplication (splice donor variant)	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 550379	NM_000022.4(ADA):c.218+2T>G	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	GLikely pathogenic
Select item 555722	NM_000022.4(ADA):c.218+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	GLikely pathogenic
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 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

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Items: 46