ClinVar for PubMed (Select 26376800) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3008497	NM_000022.4(ADA):c.447del (p.Ser150fs)	ADA (S150fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2910465	NM_000022.4(ADA):c.975+2T>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
Select item 2811702	NM_000022.4(ADA):c.517del (p.Gln173fs)	ADA (Q173fs +1 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	GPathogenic
Select item 2780445	NM_000022.4(ADA):c.975+2T>G	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
Select item 2768279	NM_000022.4(ADA):c.49del (p.His17fs)	ADA, LOC107303343 (H17fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2767279	NM_000022.4(ADA):c.859_877dup (p.Asn293delinsThrGlyTer)	ADA	Duplication (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2750759	NM_000022.4(ADA):c.479-23_479-2delinsTGGGACCAGCAT	ADA	Indel (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 2747975	NM_000022.4(ADA):c.507dup (p.Lys170Ter)	ADA (K35* +1 more)	Duplication (non-coding transcript variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2709658	NM_000022.4(ADA):c.2T>G (p.Met1Arg)	ADA, LOC107303343 (M1R)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2680692	NM_000022.4(ADA):c.760C>T (p.Gln254Ter)	ADA (Q119* +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
Select item 2416243	NM_000022.4(ADA):c.394del (p.Ala131_Leu132insTer)	ADA	Deletion (nonsense +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2138345	NM_000022.4(ADA):c.976-1G>C	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	GPathogenic FDA Recognized database
Select item 2131430	NM_000022.4(ADA):c.631C>A (p.Arg211Ser)	ADA (R76S +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
Select item 2130916	NM_000022.4(ADA):c.976-2A>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	GPathogenic
Select item 2095974	NM_000022.4(ADA):c.412C>T (p.Gln138Ter)	ADA (Q138*)	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 2034899	NM_000022.4(ADA):c.307del (p.Ser103fs)	ADA (V7fs +1 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	GPathogenic
Select item 1969294	NM_000022.4(ADA):c.1009G>T (p.Glu337Ter)	ADA (E313* +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
Select item 1901446	NM_000022.4(ADA):c.606+1G>T	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
Select item 1525557	NC_000020.10:g.(?_43255077)_(43264949_?)dup	ADA	Duplication	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1502199	NM_000022.4(ADA):c.780+1del	ADA	Deletion (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 1500410	NM_000022.4(ADA):c.976-1_979del	ADA	Deletion (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 1491839	NM_000022.4(ADA):c.385G>T (p.Val129Leu)	ADA (V129L)	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
Select item 1473380	NM_000022.4(ADA):c.363-2A>G	ADA	Single nucleotide variant (splice acceptor 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 1459657	NM_000022.4(ADA):c.33+2_33+104del	LOC107303343, ADA	Deletion (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1456866	NC_000020.10:g.(?_43248475)_(43280248_?)del	ADA	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1453235	NM_000022.4(ADA):c.854dup (p.Asn285fs)	ADA (N261fs +2 more)	Duplication (frameshift 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 1451616	NM_000022.4(ADA):c.1024G>T (p.Glu342Ter)	ADA (E342* +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
Select item 1437148	NM_000022.4(ADA):c.337G>T (p.Glu113Ter)	ADA (W16C +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
Select item 1406981	NM_000022.4(ADA):c.603C>A (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	GLikely pathogenic FDA Recognized database
Select item 1396468	NM_000022.4(ADA):c.306C>G (p.Tyr102Ter)	ADA (T6R +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
Select item 1370617	NM_000022.4(ADA):c.34-11_55del	ADA, LOC107303343	Deletion (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1346719	NM_000022.4(ADA):c.845+2T>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
Select item 1212273	NM_000022.4(ADA):c.996_997del (p.Ser333fs)	ADA (S198fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 1076251	NM_000022.4(ADA):c.577dup (p.Leu193fs)	ADA (L193fs +1 more)	Duplication (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1075328	NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)	ADA, LOC107303343 (Y67*)	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	GLikely pathogenic FDA Recognized database
Select item 1074979	NM_000022.4(ADA):c.366_367del (p.Asp123fs)	ADA (D123fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 1070322	NM_000022.4(ADA):c.33+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	GPathogenic
Select item 1069449	NM_000022.4(ADA):c.421G>T (p.Glu141Ter)	ADA (E141*)	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
Select item 1068993	NC_000020.10:g.(?_43252823)_(43255260_?)del	ADA	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1068992	NC_000020.10:g.(?_43264848)_(43264949_?)del	ADA	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1068124	NM_000022.4(ADA):c.467G>C (p.Arg156Pro)	ADA (R156P)	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
Select item 1066924	NM_000022.4(ADA):c.1A>G (p.Met1Val)	LOC107303343, ADA (M1V)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 983781	NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)	ADA (Y172* +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/Likely pathogenic
Select item 968429	NM_000022.4(ADA):c.879_898del (p.Thr294fs)	ADA (T294fs +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	GPathogenic
Select item 960034	NM_000022.4(ADA):c.690dup (p.Leu231fs)	ADA (L96fs +2 more)	Duplication (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 959920	NM_000022.4(ADA):c.645_648dup (p.Glu217fs)	ADA (E82fs +1 more)	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
Select item 860314	NM_000022.4(ADA):c.970del (p.Arg324fs)	ADA (R189fs +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	GPathogenic
Select item 839704	NM_000022.4(ADA):c.705del (p.Leu236fs)	ADA (L101fs +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	GPathogenic
Select item 832749	NC_000020.11:g.(?_44636217)_(44636298_?)del	ADA	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 830578	NC_000020.11:g.(?_44636217)_(44636298_?)dup	ADA	Duplication	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 653773	NM_000022.4(ADA):c.479-2del	ADA	Deletion (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 635324	NM_000022.4(ADA):c.44A>T (p.His15Leu)	ADA, LOC107303343 (H15L)	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
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 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 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 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 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 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 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 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 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 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 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 424762	NM_000022.3(ADA):c.[780+1G>A];[986C>T]			Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 377441	NM_000022.4(ADA):c.7C>T (p.Gln3Ter)	ADA, LOC107303343 (Q3*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 265025	NM_000022.4(ADA):c.478+1G>A	ADA	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic
Select item 242481	NM_000022.4(ADA):c.780+1G>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
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 193544	NM_000022.4(ADA):c.956_960del (p.Glu319fs)	ADA (E184fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 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
Select item 68260	NM_000022.4(ADA):c.385G>A (p.Val129Met)	ADA (V129M)	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 35654	NM_000022.4(ADA):c.872C>G (p.Ser291Trp)	ADA (S291W +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency disease +1 more	GLikely pathogenic
Select item 1984	NM_000022.4(ADA):c.467G>A (p.Arg156His)	ADA (R156H)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 1971	NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	ADA (S291L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	not provided +2 more	GPathogenic/Likely pathogenic
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 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 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

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Items: 79